Associated Papers
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
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
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.
Soares de Lima Y et al.
Hearing Research, 2018
Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
Hart J et al.
American Journal of Medical Genetics. Part A, 2017
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Chen D et al.
Human Genome Variation, 2017
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
Baldwin CT et al.
American Journal of Medical Genetics, 1995
Select a paper to view details