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Am J Med Genet. 2002 Oct 15;112(3):304-13.

Some chondrodysplasias with short limbs: molecular perspectives.

Author information

1
Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada. remaclea@is.dal.ca

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.

PMID:
12357475
DOI:
10.1002/ajmg.10780
[Indexed for MEDLINE]

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