Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spe...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Reinstein, Eyal, Tzur, Shay, Cohen, Rony, Bormans, Concetta, Behar, Doron M
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110068/
https://ncbi.nlm.nih.gov/pubmed/27329731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.72
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