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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Bibliographic Details
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
Format:	Artigo
Language:	Inglês
Published:	2000
Subjects:	Research Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1378013/ https://ncbi.nlm.nih.gov/pubmed/10762540
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Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

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