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 of ATP2A1, a deleted gene involved in diaphragm development.

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

Genesio, Rita;Maruotti, Giuseppe Maria;Saccone, Gabriele;Mormile, Angela;Conti, Anna;Cicatiello, Rita;SARNATARO, VIVIANA;Sirico, Angelo;Izzo, Antonella;Martinelli, Pasquale;Nitsch, Lucio
2018

Abstract

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 of ATP2A1, a deleted gene involved in diaphragm development.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11588/728513
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