Article
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
American journal of medical genetics. Part A - 15 Mar 2004
Mäkitie Outi, Mortier Geert R, Czarny-Ratajczak Malwina, Wright Michael J, Suri Mohnish, Rogala Piotr, Freund Margarida, Jackson Gail C, Jakkula Eveliina, Ala-Kokko Leena, Briggs Michael D, Cole William G
Abstract excerpt
Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in the gene encoding matrilin-3, an extracellular matrix protein, in seven families with autosomal dominant MED. Review of the clinical and radiographic features in 12...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Extracellular Matrix Proteins
- Family
- Female
- Humans
- Male