A carregar...

A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Chatmethakul, Trassanee, Phaltas, Rozaleen, Minzes, Gwen, Martinez, Jose, Bhat, Ramachandra
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2019
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688876/
https://ncbi.nlm.nih.gov/pubmed/31406620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1677551
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!