An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay
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DOI: 10.1080/01677063.2022.2149748
Abstract: Abstract Global developmental delay (GDD) is a lifelong disability that affects 1–3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are… read more here.
Keywords: novel homozygous; developmental delay; variant; progressive microcephaly ... See more keywords