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Article

Marfan syndrome: from gene to therapy.

Current opinion in pediatrics - 1 Aug 2012

Bolar Nikhita, Van Laer Lut, Loeys Bart L

Abstract excerpt

PURPOSE OF REVIEW: Although historically Marfan syndrome (MFS) has always been considered as a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1, the study of Marfan mouse models and Marfan-related conditions has shifted our current understanding to a pathogenic model that involves dysregulation of the cytokine-transforming growth factor beta (TGF-β) signaling. RECENT...

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Source

Identifiers

PMID: 22705998
DOI: 10.1097/MOP.0b013e3283557d4c

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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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