Associated Papers
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
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
Wang XP et al.
Biochemical and Biophysical Research Communications, 2017
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
[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
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Zhang H et al.
Human Genetics, 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
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
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
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
Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates.
Dutton KA et al.
Development (cambridge, England), 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
Cell type-specific activation of neuronal nicotinic acetylcholine receptor subunit genes by Sox10.
Liu Q et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Pingault V et al.
Nature Genetics, 1998