%0 Journal Article
%T Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0012-z
%X Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED
%U https://www.nature.com/articles/s41439-018-0012-z