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
Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.
Xiao Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Wang J et al.
Molecular Vision, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
A novel missense mutation in the PAX3 gene in a case of Waardenburg syndrome type I.
Nakamura M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
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