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_MOESM3_ESM.xls › Sheet1
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM12_ESM.xlsx › Paralogs
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Bondurand N et al.
Human Molecular Genetics, 2000
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
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
Watanabe A et al.
Nature 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
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH et al.
Human Mutation, 1996
Transcriptional regulation of gene expression: mechanisms and pathophysiology.
Semenza GL
Human Mutation, 1994
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