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Article

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

American journal of medical genetics. Part A - 1 Jun 2011

Shaheen Ranad, Al-Owain Mohammed, Faqeih Eissa, Al-Hashmi Nadia, Awaji Ali, Al-Zayed Zayed, Alkuraya Fowzan S

Abstract excerpt

Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI...

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Identifiers

PMID: 21567934
DOI: 10.1002/ajmg.a.34025

Genes

FKBP10

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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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