Associated Papers
Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.
Zafiri J et al.
Biomedical Reports, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate.
Liang W et al.
Genetic Testing and Molecular Biomarkers, 2021
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
[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
The PAX3 paired domain and homeodomain function as a single binding module in vivo to regulate subnuclear localization and mobility by a mechanism that requires base-specific recognition.
Corry GN et al.
Journal of Molecular Biology, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
Wu HT et al.
Clinical Dysmorphology, 2009
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Corry GN et al.
Human Molecular Genetics, 2008
Dissection of the functional interaction between p53 and the embryonic proto-oncoprotein PAX3.
Underwood TJ et al.
Febs Letters, 2007
Waardenburg syndrome.
Dourmishev AL et al.
International Journal of Dermatology, 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
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH et al.
Human Mutation, 1996
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
Transcriptional regulation of gene expression: mechanisms and pathophysiology.
Semenza GL
Human Mutation, 1994