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. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - 6:4(2018), pp. 592-595. [10.1002/ccr3.1369]
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.| File | Dimensione | Formato | |
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93 case rep diap hernia - Clinical Case Report - Genesio.pdf
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