Condition: Waardenburg Syndrome, Type 4b
rs74315384 in
EDN3 gene and
Waardenburg Syndrome, Type 4b
PMID 12189494 2002 SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
PMID 8630503 1996 A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
PMID 11303518 2001 A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
PMID 27018795 2016 Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
PMID 20127975 2010 Review and update of mutations causing Waardenburg syndrome.