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
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X et al.
Human Genetics, 2023
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
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
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
29792164 (PubMed )
Supplement: 12887_2018_1139_MOESM5_ESM.docx
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