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Article

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome

17 Feb 2019

Abstract excerpt

The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with...

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PMID: 30773818
DOI: 10.1002/ajmg.a.61091

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Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndromePMID 30773818Read ↗

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