Associated Papers
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
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 type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.
Hemmi A et al.
The Journal of Dermatology, 2018
Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene.
Okamura K et al.
The Journal of Dermatology, 2015
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