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Article

A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.

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

Baruch Yoav, Horn-Saban Shirley, Plotsky Yoram, Bercovich Dani, Gershoni-Baruch Ruth

Abstract excerpt

Ververi-Brady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss-of-function variants in the glutamine-rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cases have just been described substantiating the notion that children with...

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PMID: 33738978
DOI: 10.1002/ajmg.a.62184

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