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
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Burke EA et al.
American Journal of Medical Genetics. Part A, 2020
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