Disease: Metaphyseal chondrodysplasia- others
- A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia
- COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
- Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia
- Dyssegmental dwarfism: a new syndrome of lethal dwarfism
- Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs
- Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
- Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients
- The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases