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 comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S et al.
Bmc Pediatrics, 2021
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Minami SB et al.
Gene, 2019
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
Suzuki N et al.
Bmc Pediatrics, 2018
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
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