Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

BMC medical genetics - 22 Nov 2011

Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas

Abstract excerpt

BACKGROUND: Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients in the first report indeed had isolated Osteogenesis imperfecta or if Bruck syndrome would have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Codon, Terminator
Share to Connective tissue disorders research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Osteogenesis Imperfecta

Share to Pedigree

Share to Tacrolimus Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 22107750
DOI: 10.1186/1471-2350-12-152
PMCID: PMC3270005

Genes

FKBP10

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.PMID 22107750Read ↗

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.Semantic proximity Read ↗

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.Semantic proximity Read ↗

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.Semantic proximity Read ↗

New insights on the clinical variability of FKBP10 mutations.Semantic proximity Read ↗

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.Semantic proximity Read ↗

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Semantic proximity Read ↗

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10 MutationsSemantic proximity Read ↗

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.Semantic proximity Read ↗

Clinical and genetic landscape of Bruck syndrome in the Indian populationSemantic proximity Read ↗

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.Semantic proximity Read ↗

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.