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Article

Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.

Genetics research - 1 Jan 2022

Yang Rencong, Zhang Wu, Lu Hua, Liu Jinlong, Xia Yu, Liao Shengjie, Li Xiaohui, Zhang Xiaoshen, Fan Xiaoping, Wang Chaojie

Abstract excerpt

Background: Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. Method: A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and...

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Identifiers

PMID: 35440892
DOI: 10.1155/2022/3556302
PMCID: PMC9005307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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