Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 247-251

  Bidaud, Christelle ^a   Salomon, Rémi ^a   Van Camp, Guy ^b   Pelet, Anna ^a   Attié, Tania ^a   Eng, Charis ^c   Bonduelle, Maryse ^d   Amiel, Jeanne ^a   Nihoul Fékété, Claire ^a   Willems, Patrick J ^b   Munnich, Arnold ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c HARVARD MEDICAL SCHOOL   (United States)

^d VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

Endothelin; Enteric nervous system; Hirschsprung disease; Malformation; Neural crest cells; Waardenburg syndrome

Indexed keywords

ENDOTHELIN 3;

ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GLIA CELL; HIRSCHSPRUNG DISEASE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURAL CREST CELL; PRIORITY JOURNAL; PROTO ONCOGENE; SIGNAL TRANSDUCTION; WAARDENBURG SYNDROME;

EID: 12644284522     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484771     Document Type: Article

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