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Article

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet journal of rare diseases - 15 Oct 2020

Stengl Roland, Bors András, Ágg Bence, Pólos Miklós, Matyas Gabor, Molnár Mária Judit, Fekete Bálint, Csabán Dóra, Andrikovics Hajnalka, Merkely Béla, Radovits Tamás, Szabolcs Zoltán, Benke Kálmán

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations of the FBN1 gene. Our aim was to identify mutations of MFS patients with high detection rate and to investigate the use of a gene panel for patients with Marfanoid habitus. We also aimed to...

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Identifiers

PMID: 33059708
DOI: 10.1186/s13023-020-01569-4
PMCID: PMC7558671

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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