Associated Papers
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Hamada J et al.
Human Genome Variation, 2020
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
Waardenburg Syndrome Expression and Penetrance.
Shelby MV
Journal of Rare Diseases Research & Treatment, 2017
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
Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
Chen K et al.
International Journal of Pediatric Otorhinolaryngology, 2015
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
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
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
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.
Mollaaghababa R et al.
Oncogene, 2003
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Inoue K et al.
Annals of Neurology, 2002
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
Sham MH et al.
Journal of Medical Genetics, 2001
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
Potterf SB et al.
Human Genetics, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Touraine RL et al.
American Journal of Human Genetics, 2000
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
Southard-Smith EM et al.
Genome Research, 1999