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

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 and reti...

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Detalles Bibliográficos
Autores principales:	Schierz, Ingrid Anne Mandy, Cimador, Marcello, Giuffrè, Mario, Aiello, Claudia Maria, Antona, Vincenzo, Corsello, Giovanni, Piro, Ettore
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501675/ https://www.ncbi.nlm.nih.gov/pubmed/32948239 http://dx.doi.org/10.1186/s13052-020-00901-9

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