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
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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
29792164 (PubMed )
Supplement: 12887_2018_1139_MOESM5_ESM.docx
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Donkervoort S et al.
Neurology. Genetics, 2017
Waardenburg Syndrome Expression and Penetrance.
Shelby MV
Journal of Rare Diseases Research & Treatment, 2017
Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
Liang F 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
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
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
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
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
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Inoue K et al.
Annals of Neurology, 2002
Select a paper to view details