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Article

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank.

European journal of human genetics : EJHG - 1 Sept 2020

Williams Simon G, Nakev Apostol, Guo Hui, Frain Simon, Tenin Gennadiy, Liakhovitskaia Anna, Saha Priyanka, Priest James R, Hentges Kathryn E, Keavney Bernard D

Abstract excerpt

Deletion of a non-imprinted 500kb genomic region at chromosome 15q11.2, between breakpoints 1 and 2 of the Prader-Willi/Angelman locus (BP1-BP2 deletion), has been associated in previous studies with phenotypes including congenital cardiovascular malformations (CVM). Previous studies investigating association between BP1-BP2 deletion and CVM have tended to recruit cases with rarer and more severe CVM phenotypes;...

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Identifiers

PMID: 32327713
DOI: 10.1038/s41431-020-0626-8
PMCID: PMC7608352

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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