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

Authors :
Pingault, Véronique
Bondurand, Nadège
Lemort, Nicole
Sancandi, Monica
Ceccherini, Isabella
Hugot, Jean-Pierre
Jouk, Pierre-Simon
Goossens, Michel
Source :
Journal of Medical Genetics; Mar2001, Vol. 38 Issue 3, p205-208, 4p, 2 Diagrams
Publication Year :
2001

Abstract

Presents a letter to the editor about the effect of endothelin 3 mutation on neurocristopathy phenotypes in Waardenburg-Hirschsprung disease.

Subjects

Subjects :
LETTERS to the editor
ENDOTHELINS

Details

Language :
English
ISSN :
00222593
Volume :
38
Issue :
3
Database :
Complementary Index
Journal :
Journal of Medical Genetics
Publication Type :
Academic Journal
Accession number :
18346506
Full Text :
https://doi.org/10.1136/jmg.38.3.205