De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.008
Abstract: Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three… read more here.
Keywords: variants mapk8ip3; novo variants; intellectual disability; brain anomalies ... 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