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 )
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Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I.
Grewal PS et al.
Ophthalmic Genetics, 2020
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Carey ML et al.
Journal of Medical Genetics, 1998
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
Morell R et al.
Journal of Medical Genetics, 1997
The mutational spectrum in Waardenburg syndrome.
Tassabehji M et al.
Human Molecular Genetics, 1995
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