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Article

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

European journal of medical genetics - 1 Jan 2000

Villamizar Carlos, Regalado Ellen S, Fadulu Van Tran, Hasham Sumera N, Gupta Prateek, Willing Marcia C, Kuang Shao-Qing, Guo Dongchuan, Muilenburg Ann, Yee Richard W, Fan Yuxin, Towbin Jeffrey, Coselli Joseph S, LeMaire Scott A, Milewicz Dianna M

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three His...

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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: 19941982
DOI: 10.1016/j.ejmg.2009.11.001
PMCID: PMC4354948

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19941982-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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