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

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

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...

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Bibliographic Details
Main Authors: Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Italian Journal of Pediatrics
Subjects:
Case-report
REarranged during Transfection
Neurocristopathy
Hirschsprung disease
Congenital digestive system abnormalities
Online Access:http://link.springer.com/article/10.1186/s13052-020-00901-9

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http://link.springer.com/article/10.1186/s13052-020-00901-9

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