A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

BMJ Publishing Group, Journal of Medical Genetics, 3(38), p. 205-209

Journal article published in 2001 by Monica Sancandi, Nadège Bondurand, Nicole Lemort, Isabella Ceccherini, J. P. Hugot, P. S. Jouk, Véronique Pingault

, Michel Goossens

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