Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2019.3779
Abstract: Importance Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making… read more here.
Keywords: association; 15q11 bp1; region; bp1 bp2 ... See more keywords
Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Intellectual Disability Research"
DOI: 10.1111/jir.12382
Abstract: BACKGROUND The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when… read more here.
Keywords: bp1 bp2; 15q11 bp1; disorder; microdeletion ... See more keywords