Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

doi:10.1002/ajmg.a.62359

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Article

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

American journal of medical genetics. Part A - 1 Oct 2021

Burns William, Bird Lynne M, Heron Delphine, Keren Boris, Ramachandra Divya, Thiffault Isabelle, Del Viso Florencia, Amudhavalli Shivarajan, Engleman Kendra, Parenti Ilaria, Kaiser Frank J, Wierzba Jolanta, Riedhammer Korbinian M, Liptay Susanne, Zadeh Neda, Porrmann Joseph, Fischer Andrea, Gößwein Sophie, McLaughlin Heather M, Telegrafi Aida, Langley Katherine G, Steet Richard, Louie Raymond J, Lyons Michael J

Abstract excerpt

The DEAD/DEAH box RNA helicases are a superfamily of proteins involved in the processing and transportation of RNA within the cell. A growing literature supports this family of proteins as contributing to various types of human disorders from neurodevelopmental disorders to syndromes with multiple congenital anomalies. This article presents a cohort of nine unrelated individuals with de novo missense alterations...

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PMID: 34050707
DOI: 10.1002/ajmg.a.62359

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