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Article

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.

PLoS genetics - 1 Jun 2011

Kuang Shao-Qing, Guo Dong-Chuan, Prakash Siddharth K, McDonald Merry-Lynn N, Johnson Ralph J, Wang Min, Regalado Ellen S, Russell Ludivine, Cao Jiu-Mei, Kwartler Callie, Fraivillig Kurt, Coselli Joseph S, Safi Hazim J, Estrera Anthony L, Leal Suzanne M, LeMaire Scott A, Belmont John W, Milewicz Dianna M

Abstract excerpt

Chromosomal deletions or reciprocal duplications of the 16p13.1 region have been implicated in a variety of neuropsychiatric disorders such as autism, schizophrenia, epilepsies, and attention-deficit hyperactivity disorder (ADHD). In this study, we investigated the association of recurrent genomic copy number variants (CNVs) with thoracic aortic aneurysms and dissections (TAAD). By using SNP arrays to screen and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21698135
DOI: 10.1371/journal.pgen.1002118
PMCID: PMC3116911

Genes

MYH11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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