Associated Papers
Lentiginosis and café-au-lait macules as part of the phenotypic spectrum of PAX3-related disorders.
Morice-Picard F et al.
Clinical and Experimental Dermatology, 2020
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
[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
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
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
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