Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
Graziani L et al.
Molecular Syndromology, 2024
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
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
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel
SOX10 mutations mimic isolated hearing loss.
Pingault V et al.
Clinical Genetics, 2015
Select a paper to view details