A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes?
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J. Hugot | P. Jouk | I. Ceccherini | M. Goossens | M. Sancandi | V. Pingault | N. Bondurand | N. Lemort