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Article

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.

Congenital anomalies - 1 Jan 2018

Cetinkaya Arda, Karaman Ali, Mutlu Mehmet Burak, Yavuz Taner

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28321935
DOI: 10.1111/cga.12220

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.PMID 28321935Read ↗

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.Semantic proximity Read ↗

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[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].Semantic proximity Read ↗

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Semantic proximity Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Semantic proximity Read ↗

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