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Article

Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.

Prenatal diagnosis - 1 Dec 1995

Rantamäki T, Raghunath M, Karttunen L, Lönnqvist L, Child A, Peltonen L

Abstract excerpt

Marfan syndrome (MFS) is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin-1. All but one of over 30 published mutations have been unique and specific prenatal diagnostics can only be provided to families with a previously estab...

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Identifiers

PMID: 8750301
DOI: 10.1002/pd.1970151217

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-8750301-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.PMID 8750301Read ↗

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