A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3 /EDNRB gene mutations on neurocristopathy phenotypes?

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3 /EDNRB gene mutations on neurocristopathy phenotypes?

PINGAULT V,BONDURAND N,LEMORT N,SANCANDI M,CECCHERINI I,HUGOT J,JOUK P,GOOSSENS M

Source :

2001 Mar 1

Pmid / DOI:

10.1136/jmg.38.3.205

Abstract

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