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Article

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

Pediatric research - 1 Mar 2011

Stheneur Chantal, Faivre Laurence, Collod-Béroud Gwenaëlle, Gautier Elodie, Binquet Christine, Bonithon-Kopp Claire, Claustres Mireille, Child Anne H, Arbustini Eloisa, Adès Lesley C, Francke Uta, Mayer Karin, Arslan-Kirchner Mine, De Paepe Anne, Chevallier Bertrand, Bonnet Damien, Jondeau Guillaume, Boileau Catherine

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Proban...

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Source

Identifiers

PMID: 21135753
DOI: 10.1203/PDR.0b013e3182097219

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21135753-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.PMID 21135753Read ↗

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