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Article

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.

American journal of medical genetics. Part A - 1 Jun 2020

Willis Brooke R, Lee Mianne, Rethanavelu Kavitha, Fung Jasmine L F, Wong Rosanna M S, Hui Peter, Yeung Kit S, Lo Ivan F M, Chung Brian H Y

Abstract excerpt

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety-five percent of MFS probands have a mutation in the fibrillin-1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype-genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13-21). One of the...

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PMID: 32198975
DOI: 10.1002/ajmg.a.61567

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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