Subject Areas on Research
- A case of Ollier's disease associated with two intracranial gliomas.
- An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
- Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.
- BMP2, but not BMP4, is crucial for chondrocyte proliferation and maturation during endochondral bone development.
- Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
- Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.
- Hypophosphatemic rickets in opsismodysplasia.
- Leontiasis ossea in secondary hyperparathyroidism.
- Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
- Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
- Osteoarthritis-like changes and decreased mechanical function of articular cartilage in the joints of mice with the chondrodysplasia gene (cho).
- Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
- Tracheobronchopathia osteochondroplastica in a dog.
- Variant of atelosteogenesis? Report of a 20-week fetus.
- Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
- [Schimke immuno-osseous dysplasia]
Keywords of People