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Article

Identification of an FBN1 mutation in bovine Marfan syndrome-like disease.

Animal genetics - 1 Feb 2012

Hirano T, Matsuhashi T, Kobayashi N, Watanabe T, Sugimoto Y

Abstract excerpt

Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause Marfan syndrome (MFS). Frequent observation of cattle with a normal withers height, but lower body weight than age-matched normal cattle, was recently reported among cattle sired by phenotypically normal Bull A, in Japanese Black cattle. These cattle also showed other characteristic features similar to the...

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Source

Identifiers

PMID: 22221020
DOI: 10.1111/j.1365-2052.2011.02209.x

Genes

FBN1

Provenance

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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Identification of an FBN1 mutation in bovine Marfan syndrome-like disease.PMID 22221020Read ↗

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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.Semantic proximity Read ↗

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.Semantic proximity Read ↗

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.Semantic proximity Read ↗

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Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.Semantic proximity Read ↗

Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).Semantic proximity Read ↗

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