Associated Papers
[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
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.
Matera I et al.
Pigment Cell Research, 2007
EDNRB/EDN3 and Hirschsprung disease type II.
McCallion AS et al.
Pigment Cell Research, 2001
Waardenburg syndrome.
Dourmishev AL et al.
International Journal of Dermatology, 1999
Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.
Kusafuka T et al.
Pediatric Surgery International, 1997
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Hofstra RM et al.
Nature Genetics, 1996
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