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Article

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.

American journal of human genetics - 1 Apr 1999

Rantamäki T, Kaitila I, Syvänen A C, Lukka M, Peltonen L

Abstract excerpt

Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although...

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Identifiers

PMID: 10090884
DOI: 10.1086/302309
PMCID: PMC1377823

Genes

FBN1

Provenance

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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