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Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

BackgroundThe NONO gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair. Hemizygous variants in NONO have been reported to cause mental retardation, X-linked, syndromic 34 (MRXS34) in males. Due to the scarcity of cl...

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Principais autores: Hairui Sun, Lu Han, Xiaoshan Zhang, Xiaoyan Hao, Xiaoxue Zhou, Ruiqing Pan, Hongjia Zhang, Yihua He
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2020-11-01
סדרה:Frontiers in Genetics
נושאים:
congenital heart disease
hypoplastic left heart syndrome
NONO (p54nrb)
mini-gene splicing assay
intronic variant
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fgene.2020.593688/full
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