Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

Volume: 182, Issue: 4, Pages: 652 - 658
Published: Dec 28, 2019
Abstract
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 and DNA binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Hemizygous loss‐of‐function variants in NONO have been shown to cause mental retardation, X‐linked, syndromic 34 in males. Features of this disorder can include a range of...
Paper Details
Title
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO
Published Date
Dec 28, 2019
Volume
182
Issue
4
Pages
652 - 658
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