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Article

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2014

Stheneur Chantal, Tubach Florence, Jouneaux Marlène, Roy Carine, Benoist Gregoire, Chevallier Bertrand, Boileau Catherine, Jondeau Guillaume

Abstract excerpt

PURPOSE: Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. METHODS: Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compare...

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Source

Identifiers

PMID: 24008997
DOI: 10.1038/gim.2013.123

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24008997-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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