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[Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant].

Acta ortopedica mexicana - 1 Jan 2000

Cammarata-Scalisi F, Capolino R, Magliozzi M, Novelli A, Galeotti A, Callea M

Abstract excerpt

Marfan syndrome ([MS], OMIM 154700) is a connective tissue disorder that exhibits an autosomal dominant pattern of inheritance, whose clinical characteristics can affect multiple systems or organs in a variable way. It is caused by mutations in the FBN1 gene (OMIM 134797) located at 15q21.1. Neonatal MS is an uncommon variety of the entity associated with missense mutation between exons 23-33 and truncating...

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PMID: 35793259

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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