Associated Papers
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
[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
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations.
Moore SW et al.
Journal of Pediatric Surgery, 2007
Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
Sangkhathat S et al.
Pediatric Surgery International, 2005
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