Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

• Auteurs principaux: Ingrid Anne Mandy Schierz (Auteur), Marcello Cimador (Auteur), Mario Giuffrè (Auteur), Claudia Maria Aiello (Auteur), Vincenzo Antona (Auteur), Giovanni Corsello (Auteur), Ettore Piro (Auteur)
• Format: Livre
• Publié: BMC, 2020-09-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal...