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