Matsui, Y

A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia. [electronic resource] - Journal of human genetics 2000 - 105-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1434-5161

10.1007/s100380050024 doi


Adolescent
Collagen--genetics
DNA Mutational Analysis
Female
Humans
Leg--diagnostic imaging
Mutation, Missense
Osteochondrodysplasias--diagnostic imaging
Pedigree
Polymerase Chain Reaction
Radiography