2. Academic Validation
  3. Some chondrodysplasias with short limbs: molecular perspectives

Some chondrodysplasias with short limbs: molecular perspectives

  • Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.
M Michael Cohen Jr 1
Affiliations

Affiliation

  • 1 Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada. remaclea@is.dal.ca
PMID: 12357475 DOI: 10.1002/ajmg.10780
Abstract

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by Fibroblast Growth Factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.

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