# Bruck syndrome

> syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

**Wikidata**: [Q3508623](https://www.wikidata.org/wiki/Q3508623)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bruck_syndrome)  
**Source**: https://4ort.xyz/entity/bruck-syndrome


## References

1. Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients
2. Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up
3. A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
4. Disease Ontology
5. Monarch Disease Ontology release 2018-06-29
6. UniProt
7. FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
8. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. UMLS 2023