Ontology highlight
ABSTRACT:
SUBMITTER: Brooks AS
PROVIDER: S-EPMC1734390 | biostudies-literature | 1999 Jun
REPOSITORIES: biostudies-literature
Brooks A S AS Breuning M H MH Osinga J J vd Smagt J J JJ Catsman C E CE Buys C H CH Meijers C C Hofstra R M RM
Journal of medical genetics 19990601 6
Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanning of genes potentially involved in Hirschsprung disease, RET, GDNF, EDN3, and EDNRB, showed a sequence ...[more]