Associated Papers
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
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
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
33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1A_SOX10-WS
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
30936914 (PubMed )
Supplement: 7143458.f3.pdf
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
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Pingault V et al.
American Journal of Human Genetics, 2013
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L et al.
Biochemical and Biophysical Research Communications, 2011
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