Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses: (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion traits, associated with CHD; (2) a possible role...

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Detalles Bibliográficos
Publicado en:Clin Case Rep
Main Authors: Genesio, Rita, Maruotti, Giuseppe Maria, Saccone, Gabriele, Mormile, Angela, Conti, Anna, Cicatiello, Rita, Sarnataro, Viviana, Sirico, Angelo, Izzo, Antonella, Martinelli, Pasquale, Nitsch, Lucio
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889234/
https://ncbi.nlm.nih.gov/pubmed/29636920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1369
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