An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurogenetics"
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
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13608
Abstract: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA; OMIM #617527) is a rare autosomal recessive genetic condition associated with mutated PLAA (NM_001031689.3). To date, only six such families have been recorded [1, 2].… read more here.
Keywords: neurodevelopmental disorder; disorder progressive; progressive microcephaly; spasticity brain ... See more keywords