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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Vydáno v:Ital J Pediatr
Hlavní autoři: Schierz, Ingrid Anne Mandy, Cimador, Marcello, Giuffrè, Mario, Aiello, Claudia Maria, Antona, Vincenzo, Corsello, Giovanni, Piro, Ettore
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7501675/
https://ncbi.nlm.nih.gov/pubmed/32948239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00901-9
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