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Article

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

Human molecular genetics - 1 Apr 1995

Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen M N, DePaepe A, Godfrey M

Abstract excerpt

The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue. Variable and pleiotropic clinical features are observed in the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum of this disorder comprises a group of patients usually diagnosed at birth, who have a life expectancy of little more than a year. To distinguish this group of patients...

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Source

Identifiers

PMID: 7633409
DOI: 10.1093/hmg/4.4.607

Genes

FBN1
EGF

Provenance

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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Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.PMID 7633409Read ↗

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Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.Semantic proximity Read ↗

A recurring FBN1 gene mutation in neonatal Marfan syndrome.Semantic proximity Read ↗

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