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Article

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

American journal of medical genetics. Part A - 1 Sept 2013

Cecchi Alana, Ogawa Naomi, Martinez Hugo R, Carlson Alicia, Fan Yuxin, Penny Daniel J, Guo Dong-chuan, Eisenberg Steven, Safi Hazim, Estrera Anthony, Lewis Richard A, Meyers Deborah, Milewicz Dianna M

Abstract excerpt

Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD,...

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Source

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Identifiers

PMID: 23897642
DOI: 10.1002/ajmg.a.36044
PMCID: PMC3829633

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23897642-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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