array:24 [ "pii" => "S2387020620305301" "issn" => "23870206" "doi" => "10.1016/j.medcle.2019.06.044" "estado" => "S300" "fechaPublicacion" => "2020-12-11" "aid" => "4938" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2019" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2020;155:507-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "en" => array:19 [ "pii" => "S0025775319304919" "issn" => "00257753" "doi" => "10.1016/j.medcli.2019.06.009" "estado" => "S300" "fechaPublicacion" => "2020-12-11" "aid" => "4938" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2020;155:507-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "A novel <span class="elsevierStyleItalic">JAG1</span> mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "507" "paginaFinal" => "509" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1887 "Ancho" => 2917 "Tamanyo" => 539618 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical features and genetic results in the family of monozygotic twins. (a) Facial dysmorphism of twins and the mother. (b) Posterior embryotoxon (black arrow) in eyes of Ttwin A and Twin B, the mother had normal eyes. (c) A similar giant liver lesion is present in twins. (d) Butterfly vertebra (white arrow) in T8 of Twin A. (e) Single kidney of Twin A. (f) Chromatogram showing genetic mutation (c.2801_c.2802delGCinsT; p. G934Vfs*11).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Yi Zhang, Bo Xiang, Xijie Yu" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Yi" "apellidos" => "Zhang" ] 1 => array:2 [ "nombre" => "Bo" "apellidos" => "Xiang" ] 2 => array:2 [ "nombre" => "Xijie" "apellidos" => "Yu" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020620305301" "doi" => "10.1016/j.medcle.2019.06.044" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620305301?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775319304919?idApp=UINPBA00004N" "url" => "/00257753/0000015500000011/v1_202012080624/S0025775319304919/v1_202012080624/en/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2387020620305222" "issn" => "23870206" "doi" => "10.1016/j.medcle.2019.07.027" "estado" => "S300" "fechaPublicacion" => "2020-12-11" "aid" => "4971" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2020;155:509-10" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Nailfold capillaroscopy in the Spanish Group of Systemic Autoimmune Diseases (GEAS). Results of an electronic survey" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "509" "paginaFinal" => "510" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Capilaroscopia periungueal en el Grupo Español de Enfermedades Autoinmunes Sistémicas (GEAS). Resultados de una encuesta electrónica" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:2 [ 0 => array:2 [ "autoresLista" => "Luis Sáez-Comet, Patricia Fanlo-Mateo, Borja Gracia-Tello" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Luis" "apellidos" => "Sáez-Comet" ] 1 => array:2 [ "nombre" => "Patricia" "apellidos" => "Fanlo-Mateo" ] 2 => array:2 [ "nombre" => "Borja" "apellidos" => "Gracia-Tello" ] 3 => array:1 [ "colaborador" => "on behalf of GREC (Spanish Capillaroscopy Group)" ] ] ] 1 => array:2 [ "autoresLista" => "" "autores" => array:1 [ 0 => array:1 [ "colaborador" => "Other members of the Spanish Capillaroscopy Group" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775319305251" "doi" => "10.1016/j.medcli.2019.07.012" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775319305251?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620305222?idApp=UINPBA00004N" "url" => "/23870206/0000015500000011/v1_202012152105/S2387020620305222/v1_202012152105/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2387020620305155" "issn" => "23870206" "doi" => "10.1016/j.medcle.2019.05.041" "estado" => "S300" "fechaPublicacion" => "2020-12-11" "aid" => "4933" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Med Clin. 2020;155:506-7" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Prevalence of uveitis in a Spanish population, UveCAM study" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "506" "paginaFinal" => "507" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Prevalencia de uveítis en una población española, estudio UveCAM" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Ángel M. García-Aparicio, Laura Alonso Martín, Ricardo Quirós Zamorano" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Ángel M." "apellidos" => "García-Aparicio" ] 1 => array:2 [ "nombre" => "Laura" "apellidos" => "Alonso Martín" ] 2 => array:2 [ "nombre" => "Ricardo" "apellidos" => "Quirós Zamorano" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775319304865" "doi" => "10.1016/j.medcli.2019.05.032" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775319304865?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620305155?idApp=UINPBA00004N" "url" => "/23870206/0000015500000011/v1_202012152105/S2387020620305155/v1_202012152105/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "A novel <span class="elsevierStyleItalic">JAG1</span> mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "507" "paginaFinal" => "509" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Yi Zhang, Bo Xiang, Xijie Yu" "autores" => array:3 [ 0 => array:3 [ "nombre" => "Yi" "apellidos" => "Zhang" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:4 [ "nombre" => "Bo" "apellidos" => "Xiang" "email" => array:1 [ 0 => "xb_scu.edu@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:4 [ "nombre" => "Xijie" "apellidos" => "Yu" "email" => array:2 [ 0 => "xijieyu@hotmail.com" 1 => "xijieyu@scu.edu.cn" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, China" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu 610041, China" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1887 "Ancho" => 2917 "Tamanyo" => 539618 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical features and genetic results in the family of monozygotic twins. (a) Facial dysmorphism of twins and the mother. (b) Posterior embryotoxon (black arrow) in eyes of Ttwin A and Twin B, the mother had normal eyes. (c) A similar giant liver lesion is present in twins. (d) Butterfly vertebra (white arrow) in T8 of Twin A. (e) Single kidney of Twin A. (f) Chromatogram showing genetic mutation (c.2801_c.2802delGCinsT; p. G934Vfs*11).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Alagille syndrome (ALGS) is a rare autosomal dominant genetic disorder with multisystem organ involvement. Pathogenic variants in the genes encoding Jagged1 (<span class="elsevierStyleItalic">JAG1</span>) and Notch 2 (<span class="elsevierStyleItalic">NOTCH2</span>) in the Notch signaling pathway have been identifiedOda, Elkahloun, Pike, Okajima, Krantz, Genin, Piccoli, Meltzer, Spinner, Collins, Chandrasekharappa.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> The clinical diagnosis can be made in the presence of bile duct paucity, along with 3 or more of the following major features: chronic cholestasis, cardiac defects, skeletal abnormalities, ocular abnormalities and characteristic facies. Nevertheless, the widely variable phenotype in ALGS raises questions about the primary role of the genotype in giving rise to features, or whether at least some of the effects are secondary to nongenetic factors.</p><p id="par0010" class="elsevierStylePara elsevierViewall">This was a pair of monochorionic female twins born after 34 weeks of gestation. The family history was unremarkable, and there was no history of consanguinity. Twin A presented with intermittent pruritus and stomachache at 10 years old. Twin B had similar but less prominent symptoms. Twin A weighed 23.5<span class="elsevierStyleHsp" style=""></span>kg (−1.93SD) and height was 129.5<span class="elsevierStyleHsp" style=""></span>cm (−2.15SD). Pertinent physical findings included pointed chin, deep set eyes, short nose, triangular face, broad forehead. Laboratory tests revealed elevated liver function test markers. Computed tomography showed butterfly vertebrae of T8, lack of left kidney, an 8.5<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>6.5<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>9.5<span class="elsevierStyleHsp" style=""></span>cm lesion located in the right trisegment of the liver. A hepatic biopsy showed absence of bile duct. Ophthalmologic examination showed posterior embryotoxon in the right eye. An echocardiogram was normal.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The weight of Twin B was 23<span class="elsevierStyleHsp" style=""></span>kg (−2.08SD) and her height was 129<span class="elsevierStyleHsp" style=""></span>cm (−2.23SD). She had the same characteristic face as Twin A. Impairment in her liver function was detected. Computed tomography showed a 8.1<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>9.0<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>7.7<span class="elsevierStyleHsp" style=""></span>cm lesion located in the right trisegment of the liver. No vertebral and renal abnormalities were detected. Ophthalmologic examination revealed posterior embryotoxon in the left eye. Cardiac ultrasonography revealed a thickening of the coronary sinus of approximately 11<span class="elsevierStyleHsp" style=""></span>cm. The clinical information of the twins and the mother is shown in <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The genetic testing revealed a heterozygous variant in the <span class="elsevierStyleItalic">JAG1</span> gene, p.G934Vfs*11 (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The frameshift mutation in the 23rd exon of <span class="elsevierStyleItalic">JAG1</span> (c.2801_c.2802delGCinsT; p. G934Vfs*11) in both twins was inherited from their mother, while the <span class="elsevierStyleItalic">JAG1</span> gene in their father was wild type.</p><p id="par0025" class="elsevierStylePara elsevierViewall">To our knowledge, this is the third observation of monozygotic twins with ALGS. Due to the widely variant phenotype of ALGS, it is quite confused about which factors contributing to the developmental defects of organs. Since monozygotic twins are believed to have identical genetic information, we could find some clues combining the three cases of monozygotic twins with ALGS.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Chronic cholestasis occurs in a very high proportion (∼95%) of cases, and most commonly, presents in the neonatal period or first 3 months of life, with jaundice due to conjugated hyperbilirubinemia. In the three pairs of monozygotic twins, all of them had liver involvement but with different severity. Notch signaling is tightly linked with the development of bile ducts. Izumi et al. proposed the fetal hypoxia may modify the liver disease severity of ALGS in monozygotic twins.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> Animal studies revealed that the Fringe genes including Lunatic (<span class="elsevierStyleItalic">Lfng</span>), Radical (<span class="elsevierStyleItalic">Rfng</span>), and Manic (<span class="elsevierStyleItalic">Mfng</span>) may regulate postnatal bile duct growth and remodeling.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> Hence, <span class="elsevierStyleItalic">JAG1</span> mutations largely cause the liver phenotype of ALGS, while environmental factors and genetic modifiers may affect the phenotypic severity.</p><p id="par0035" class="elsevierStylePara elsevierViewall">More than 90% ALGS patients have cardiovascular anomalies and characteristic facies. Three pairs of twins had facial features and five patients had cardiac defects, highlighting roles of Jag1 in the heart development. The cause of the facies has been debatable. It has been proposed that the facial dysmorphism is secondary to congenital intrahepatic cholestasis while Kamath et al. implied it was specific but not a common endpoint of cholestasis.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> Interestingly, renal anomalies occurred in almost half of twins. The role of <span class="elsevierStyleItalic">NOTCH2</span> and <span class="elsevierStyleItalic">JAG1</span> in formation of proximal tubules and podocytes might explain the renal dysplasia and proteinuria. Further researches are needed on how specific human mutations lead to kidney defects.</p><p id="par0040" class="elsevierStylePara elsevierViewall">It is a very complex process how JAG1 mutations lead to multisystem defects through the Notch signaling pathway, also environmental factors and genetic modifiers should be considered. Further efforts into understanding the transcriptional control of Notch genes will be essential for deciphering how variable mutations affect gene regulation and impact on disease.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1887 "Ancho" => 2917 "Tamanyo" => 539618 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical features and genetic results in the family of monozygotic twins. (a) Facial dysmorphism of twins and the mother. (b) Posterior embryotoxon (black arrow) in eyes of Ttwin A and Twin B, the mother had normal eyes. (c) A similar giant liver lesion is present in twins. (d) Butterfly vertebra (white arrow) in T8 of Twin A. (e) Single kidney of Twin A. (f) Chromatogram showing genetic mutation (c.2801_c.2802delGCinsT; p. G934Vfs*11).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in the human Jagged1 gene are responsible for Alagille syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "T. Oda" 1 => "A.G. Elkahloun" 2 => "B.L. Pike" 3 => "K. Okajima" 4 => "I.D. Krantz" 5 => "A. Genin" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0797-235" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1997" "volumen" => "16" "paginaInicial" => "235" "paginaFinal" => "242" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9207787" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0035" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "B.M. Kamath" 1 => "I.D. Krantz" 2 => "N.B. Spinner" 3 => "J.E. Heubi" 4 => "D.A. Piccoli" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.10610" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2002" "volumen" => "112" "paginaInicial" => "194" "paginaFinal" => "197" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12244555" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0040" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Discordant clinical phenotype in monozygotic twins with Alagille syndrome: possible influence of non-genetic factors" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "K. Izumi" 1 => "D. Hayashi" 2 => "C.M. Grochowski" 3 => "N. Kubota" 4 => "E. Nishi" 5 => "M. Arakawa" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet A" "fecha" => "2016" "volumen" => "170" "paginaInicial" => "471" "paginaFinal" => "475" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0045" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M.J. Ryan" 1 => "C. Bales" 2 => "A. Nelson" 3 => "D.M. Gonzalez" 4 => "L. Underkoffler" 5 => "M. Segalov" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/hep.22538" "Revista" => array:6 [ "tituloSerie" => "Hepatology" "fecha" => "2008" "volumen" => "48" "paginaInicial" => "1989" "paginaFinal" => "1997" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19026002" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0050" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Facial features in Alagille syndrome: specific or cholestasis facies?" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "B.M. Kamath" 1 => "K.M. Loomes" 2 => "R.J. Oakey" 3 => "K.E. Emerick" 4 => "T. Conversano" 5 => "N.B. Spinner" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.10579" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2002" "volumen" => "112" "paginaInicial" => "163" "paginaFinal" => "170" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12244550" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack500695" "titulo" => "Acknowledgements" "texto" => "<p id="par0045" class="elsevierStylePara elsevierViewall">The authors appreciate the efforts of Dr. Kewei Li for assistance of the case. This work was supported by grants from the <span class="elsevierStyleGrantSponsor" id="gs1">National Natural Science Foundation of China</span> (Nos. <span class="elsevierStyleGrantNumber" refid="gs1">81770875</span>, <span class="elsevierStyleGrantNumber" refid="gs1">81572639</span>), the <span class="elsevierStyleGrantSponsor" id="gs2">Science and Technology Department of Sichuan Province</span> (<span class="elsevierStyleGrantNumber" refid="gs2">2018SZ0142</span>), and <span class="elsevierStyleGrantSponsor" id="gs3">Sichuan University</span> (<span class="elsevierStyleGrantNumber" refid="gs3">2018SCUH0093</span>).</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015500000011/v1_202012152105/S2387020620305301/v1_202012152105/en/main.assets" "Apartado" => array:4 [ "identificador" => "43311" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015500000011/v1_202012152105/S2387020620305301/v1_202012152105/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620305301?idApp=UINPBA00004N" ]
Journal Information
Vol. 155. Issue 11.
Pages 507-509 (December 2020)
Vol. 155. Issue 11.
Pages 507-509 (December 2020)
Scientific letter
A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins
Visits
5
a Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, China
b Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu 610041, China
This item has received
Article information
These are the options to access the full texts of the publication Medicina Clínica (English Edition)
Subscriber
Subscribe
Purchase
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail