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

NONO (Non-Pou Domain-Containing Octamer-Binding Protein) 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 by developmental delay, intellectual...

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Detalles Bibliográficos
Autores principales: Giuffrida, Maria Grazia, Goldoni, Marina, Genovesi, Maria Luce, Carpentieri, Giovanna, Torres, Barbara, Deac, Anca Daniela, Cecchetti, Serena, Martinelli, Anna, Vaisfeld, Alessandro, Flex, Elisabetta, Bernardini, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600144/
https://www.ncbi.nlm.nih.gov/pubmed/36292043
http://dx.doi.org/10.3390/diagnostics12102354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600144/
https://www.ncbi.nlm.nih.gov/pubmed/36292043
http://dx.doi.org/10.3390/diagnostics12102354

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