3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

<i>NONO</i> (<i>Non-Pou Domain-Containing Octamer-Binding Protein</i>) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized...

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Bibliographic Details
Main Authors: Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Diagnostics
Subjects:
<i>NONO</i>
left ventricular non-compaction (LVNC)
ebstein’s anomaly
corpus callosum agenesis
prenatal diagnosis
Online Access:https://www.mdpi.com/2075-4418/12/10/2354

Internet

https://www.mdpi.com/2075-4418/12/10/2354

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