Associated Papers
A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Li Z et al.
Molecular Biology Reports, 2024
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
Fernández RM et al.
American Journal of Medical Genetics. Part A, 2014
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
Oshimo T et al.
The Journal of Dermatology, 2012
Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.
Pan ZW et al.
Journal of Pediatric Surgery, 2011
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Viñuela A et al.
American Journal of Medical Genetics. Part A, 2009
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
Inoue K et al.
Human Molecular Genetics, 2007
Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.
Shimotake T et al.
Journal of Pediatric Surgery, 2007
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
Verheij JB et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2006
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
Chan KK et al.
Journal of Cellular Biochemistry, 2003
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
Pingault V et al.
Human Genetics, 2002
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