Article
Non-syndromic Hirschsprung's disease as a result of a RET gene variant.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica - 1 Apr 2024
Gietz R, Armando R, Lobos P, Liberto D
Abstract excerpt
INTRODUCTION: Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene. CASE REPORTS: We present the case...
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