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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

著者 Scott DA , Hernandez-Garcia A , Azamian MS , Jordan VK , Kim BJ , Starkovich M , Zhang J , Wong LJ , Darilek SA , Breman AM , Yang Y , Lupski JR , Jiwani AK , Das B , Lalani SR , Iglesias AD , Rosenfeld JA , Xia F
J Med Genet.2016 Aug 22 ; ():.
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The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have been described as a cause of intellectual disability in males but have not been described in association with congenital heart defects or cardiomyopathy. In this article, we seek to further define the phenotypic consequences of NONO depletion in human subjects.
PMID: 27550220 [PubMed - as supplied by publisher]
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