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

• Hauptverfasser: Ingrid Anne Mandy Schierz (Verfasst von), Marcello Cimador (Verfasst von), Mario Giuffrè (Verfasst von), Claudia Maria Aiello (Verfasst von), Vincenzo Antona (Verfasst von), Giovanni Corsello (Verfasst von), Ettore Piro (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2020-09-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...