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Article

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2016

Groth Kristian A, Gaustadnes Mette, Thorsen Kasper, Østergaard John R, Jensen Uffe Birk, Gravholt Claus H, Andersen Niels H

Abstract excerpt

PURPOSE: The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects based on database information. The aim of this study...

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Source

Identifiers

PMID: 25812041
DOI: 10.1038/gim.2015.32

Genes

FBN1

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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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