Ontology highlight
ABSTRACT:
SUBMITTER: Dasa V
PROVIDER: S-EPMC6424334 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Dasa Vinod V Eastwood James R B JRB Podgorski Michal M Park Heewon H Blackstock Christopher C Antoshchenko Tetyana T Rogala Piotr P Bieganski Tadeusz T Jazwinski S Michal SM Czarny-Ratajczak Malwina M
American journal of medical genetics. Part A 20190210 4
Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using micr ...[more]