Rimoin, D L

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. [electronic resource] - Human genetics Mar 1994 - 236-42 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

0340-6717

10.1007/BF00212015 doi


Abnormalities, Multiple--genetics
Achondroplasia--diagnostic imaging
Adolescent
Adult
Cartilage--metabolism
Cell Line
Child
Extracellular Matrix Proteins--genetics
Female
Genetic Linkage
Humans
Inclusion Bodies--ultrastructure
Infant
Male
Osteochondrodysplasias--diagnostic imaging
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Radiography