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Article

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

BMC medical genetics - 21 Sept 2011

Furtado Larissa V, Wooderchak-Donahue Whitney, Rope Alan F, Yetman Angela T, Lewis Tracey, Plant Parker, Bayrak-Toydemir Pinar

Abstract excerpt

BACKGROUND: Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations and interventional course for each diagnosis can be quite unique. The majority of mutations involved in the etiology of these disorders are missense and nonsense...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21936929
DOI: 10.1186/1471-2350-12-119
PMCID: PMC3196690

Genes

FBN1
CTXN2
DUT
MYEF2

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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