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
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
30936914 (PubMed )
Supplement: 7143458.f3.pdf
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Corry GN et al.
Human Molecular Genetics, 2008
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
Wollnik B et al.
American Journal of Medical Genetics. Part A, 2003
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
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 mutational spectrum in Waardenburg syndrome.
Tassabehji M et al.
Human Molecular Genetics, 1995
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