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Article

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Clinical genetics - 1 Feb 1999

Booms P, Cisler J, Mathews K R, Godfrey M, Tiecke F, Kaufmann U C, Vetter U, Hagemeier C, Robinson P N

Abstract excerpt

The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue that involves principally the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum, the neonatal Marfan syndrome (nMFS), is characterized by pronounced atrioventricular valve dysfunction, and death often occurs within the first year of life due to congestive heart failure. Mutations in the...

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Source

Identifiers

PMID: 10189088
DOI: 10.1034/j.1399-0004.1999.550207.x

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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