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QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

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0 Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13853

Abstract: Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here,… read more here.

Keywords: ververi brady; spectrum; brady syndrome; qrich1 variants ... See more keywords