Article
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.
American journal of medical genetics. Part A - 1 Sept 2005
Mäkitie Outi, Susic Miki, Ward Leanne, Barclay Catherine, Glorieux Francis H, Cole William G
Abstract excerpt
The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes alpha1(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and COL10A1 mutations. Six patients had lower limb deformities, which necessitated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.