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Bibliografía
[1.]
B. Duhamel.
From the mermaid to anal imperforation. The syndrome of caudal regression.
Arch Dis Child, 36 (1961), pp. 152-155
[2.]
G. Antiñolo, M. Rufo, S. Borrego, C. Morales.
Megalocorneamental retardation syndrome: an additional case.
Am J Med Genet, 52 (1994), pp. 196-197
[3.]
S. Borrego, M.E. Sáez, A. Ruiz, O. Gimm, M. López-Alonso, G. Antiñolo, et al.
Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.
J Med Genet, 36 (1999), pp. 771-774
[4.]
S. Borrego, A. Ruiz, M.E. Sáez, O. Gimm, X. Gao, M. López-Alonso, et al.
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
J Med Genet, 37 (2000), pp. 572-578
[5.]
S. Borrego, F.A. Wright, R.M. Fernández, N. Williams, M. López-Alonso, R. Davuluri, et al.
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
Am J Hum Genet, 72 (2003), pp. 88-100
[7.]
A. Adra, D. Cordero, A. Mejides, S. Yasin, F. Salman, M.J. O'Sullivan.
Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management.
Obstet Gynecol Surv, 49 (1994), pp. 508-516
[8.]
H.B. Sarnat.
Central nervous system malformations: locations of known human mutations.
Europ J Paediatr Neural, 4 (2000), pp. 289-290
[9.]
L.M. Pedersen, Tygstrup, J. Pedersen.
Congenital malformations in newborn infants of diabetic women. Correlation with maternal diabetic complications.
Lancet, 1 (1964), pp. 1124
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