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
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
Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.
Kapoor S et al.
Molecular Vision, 2012
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
Pingault V et al.
Human Genetics, 2002
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