Article
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Clinical genetics - 1 Jan 2021
Föhrenbach Melanie, Jamra Rami Abou, Borkhardt Arndt, Brozou Triantafyllia, Muschke Petra, Popp Bernt, Rey Linda K, Schaper Jörg, Surowy Harald, Zenker Martin, Zweier Christiane, Wieczorek Dagmar, Redler Silke
Abstract excerpt
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, we present four unrelated individuals with one known nonsense variant (c.1954C > T; p.[Arg652*]) and three novel de novo QRICH1 variants,...
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