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
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S et al.
Bmc Pediatrics, 2021
Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction.
Hogan AR et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
Suzuki N et al.
Bmc Pediatrics, 2018
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu Y et al.
American Journal of Medical Genetics. Part A, 2018
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Donkervoort S et al.
Neurology. Genetics, 2017
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
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
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
SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.
Cossais F et al.
Human Molecular Genetics, 2010
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