Article
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.
PloS one - 1 Jan 2013
Luzón-Toro Berta, Fernández Raquel M, Torroglosa Ana, de Agustín Juan Carlos, Méndez-Vidal Cristina, Segura Dolores Isabel, Antiñolo Guillermo, Borrego Salud
Abstract excerpt
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic colon segment and functional intestinal obstruction. The RET proto-oncogene is the major gene associated to HSCR with differential contributions of its rare and common, coding and...
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