Información del artículo
El Texto completo está disponible en PDF
References
[1.]
J.P. Guyot, R.R. Gacek, P. DiRaddo.
The temporal bone anomaly in CHARGE association.
Arch Otolaryngol Head Neck Surg, 113 (1987), pp. 321-324
[2.]
K.D. Blake, C. Prasad.
CHARGE syndrome.
Orphanet J Rare Dis, 1 (2006), pp. 34
[3.]
D. Sanlaville, A. Verloes.
CHARGE syndrome: an update.
EJHG, 15 (2007), pp. 389-399
[4.]
A. Pampal.
CHARGE: an association or a syndrome?.
Int J Peditr Ptorhinolaryngol, 74 (2010), pp. 719-722
[5.]
G.E. Zentner, W.S. Layman, D.M. Martin, P.C. Scacheri.
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Am J Med Genet, 152 (2010), pp. 674-686
[6.]
A. Verloes.
Updated diagnostic criteria for CHARGE syndrome: a proposal.
Am J Med Genet, 133 (2005), pp. 306-308
[7.]
S.R. Lalani, A.M. Safiullah, S.D. Fernbach, K.G. Harutyunyan, C. Thaller, L.E. Peterson, et al.
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Am J Hum Genet, 78 (2006), pp. 303-314
[8.]
M. Aramaki, T. Udaka, R. Kosaki, Y. Makita, N. Okamoto, H. Yoshihashi, et al.
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
J Pediatr, 148 (2006), pp. 410-414
Copyright © 2011. Sociedad Española de Neurología
