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Article

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

The Journal of clinical investigation - 1 May 1992

Dietz H C, Pyeritz R E, Puffenberger E G, Kendzior R J, Corson G M, Maslen C L, Sakai L Y, Francomano C A, Cutting G R

Abstract excerpt

To examine the associations among fibrillin gene mutations, protein function, and Marfan syndrome phenotype, we screened for alterations in the fibrillin coding sequence in patients with a range of manifestations and clinical severity. A cysteine to serine substitution at codon 1409 (C1409S) was identified in an epidermal growth factor (EGF)-like motif from one fibrillin allele which segregates with the disease...

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Identifiers

PMID: 1569206
DOI: 10.1172/JCI115766
PMCID: PMC443046

Genes

EGF

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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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Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndromeSemantic proximity Read ↗

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