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Article

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

American journal of medical genetics. Part A - 1 Dec 2004

Ha-Vinh Russia, Alanay Yasemin, Bank Ruud A, Campos-Xavier Ana Belinda, Zankl Andreas, Superti-Furga Andrea, Bonafé Luisa

Abstract excerpt

Bruck syndrome (BS) is a recessively-inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta (OI) with congenital contractures of the large joints. Clinical heterogeneity is apparent in cases reported thus far. While the genes coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15523624
DOI: 10.1002/ajmg.a.30231

Genes

PLOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15523624-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.PMID 15523624Read ↗

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.Semantic proximity Read ↗

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.Semantic proximity Read ↗

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.Semantic proximity Read ↗

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Semantic 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 PLOD2 Cause Rare Bruck Syndrome.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 ↗

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

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

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.Semantic proximity Read ↗

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSemantic proximity Read ↗

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