Associated Papers
A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.
Wakabayashi T et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
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
Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Chen K et al.
Frontiers in Endocrinology, 2020
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Malone SA et al.
Elife, 2019
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.
Dai W et al.
Gene, 2019
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
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Pingault V et al.
American Journal of Human Genetics, 2013
Genetic determinants of hair and eye colours in the Scottish and Danish populations.
Mengel-From J et al.
Bmc Genetics, 2009
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