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Article

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

American journal of medical genetics. Part A - 1 Feb 2017

Dimopoulos Aggeliki, Sicko Robert J, Kay Denise M, Rigler Shannon L, Fan Ruzong, Romitti Paul A, Browne Marilyn L, Druschel Charlotte M, Caggana Michele, Brody Lawrence C, Mills James L

Abstract excerpt

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Extracted DNA was genotyped using Illumina microarrays and CNVs...

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Identifiers

PMID: 27901321
DOI: 10.1002/ajmg.a.37868
PMCID: PMC6205266

Genes

HDAC9
ING5
SALL3

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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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