Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inhe...

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Detalhes bibliográficos
Main Authors: Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, Encha-Razavi, F, Pelet, A, Augé, J, Nivelon-Chevallier, A, Holschneider, A M, Munnes, M, Doerfler, W, Goossens, M, Munnich, A, Vekemans, M, Lyonnet, S
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378013/
https://ncbi.nlm.nih.gov/pubmed/10762540
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