Associated Papers
DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism.
Suzuki E et al.
Heliyon, 2024
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
Shima H et al.
Journal of the Endocrine Society, 2021
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
Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.
Zhang Q et al.
Andrologia, 2020
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.
Yu X et al.
Neural Plasticity, 2020
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