Skeletal dysplasias detectable by DNA analysis.

doi:10.1002/(SICI)1097-0223(199612)16:13<1221::AID-PD97>3.0.CO;2-E

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Article

Skeletal dysplasias detectable by DNA analysis.

Prenatal diagnosis - 1 Dec 1996

Reardon W

Abstract excerpt

The emerging data of the last few years outlining the molecular basis of skeletal dysplasias has been instructive in several respects. The number of genetic loci involved appears to be much fewer than anticipated. This is offset by the identification of several instances where phenotypically dist...

Topics

Bone Diseases, Developmental
Cartilage Oligomeric Matrix Protein
Collagen
DNA
Extracellular Matrix Proteins
Glycoproteins
Humans
Matrilin Proteins
Mutation
Phenotype
Receptors, Fibroblast Growth Factor

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