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
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.
Wang F et al.
Annals of Clinical and Laboratory Science, 2018
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.
Vaaralahti K et al.
Pediatric Research, 2014
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