Associated Papers
Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.
Poon JYY et al.
American Journal of Medical Genetics. Part A, 2025
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V et al.
Journal of Medical Genetics, 2022
34667088 (PubMed )
Supplement: jmedgenet-2021-108105supp001.pdf
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
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP et al.
European Journal of Medical Genetics, 2018
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