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Start Over Descriptor "ultrasound fetal anomalies" Topic diaphragmatic hernia
1 results on '"ultrasound fetal anomalies"'

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

Author

Genesio, Rita, Maruotti, Giuseppe Maria, Saccone, Gabriele, Mormile, Angela, Conti, Anna, Cicatiello, Rita, Sarnataro, Viviana, Sirico, Angelo, Izzo, Antonella, Martinelli, Pasquale, and Nitsch, Lucio

Subjects
*DIAPHRAGMATIC hernia, *DELETION mutation, *PRENATAL diagnosis, *CHROMATIN, *DIAGNOSIS
Abstract

Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]

Published
2018
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