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Article

New insights on the clinical variability of FKBP10 mutations.

European journal of medical genetics - 1 Sept 2020

Essawi Osama H, Tapaneeyaphan Piyanoot, Symoens Sofie, Gistelinck C Charlotte, Malfait Fransiska, Eyre David R, Essawi Tamer, Callewaert Bert, Coucke Paul J

Abstract excerpt

To date 45 autosomal recessive disease-causing variants are reported in the FKBP10 gene. Those variant were found to be associated with Osteogenesis Imperfecta (OI) for which the hallmark phenotype is bone fractuers or Bruck Syndrome (BS) where bone fractures are accompanied with contractures. In addition, a specific homozygous FKBP10 mutation (p.Tyr293del) has been described in Yup'ik Inuit population to cause...

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PMID: 32531462
DOI: 10.1016/j.ejmg.2020.103980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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