1. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia. Issue 4 (10th February 2019) Authors: Dasa, Vinod; Eastwood, James R.B.; Podgorski, Michal; Park, Heewon; Blackstock, Christopher; Antoshchenko, Tetyana; Rogala, Piotr; Bieganski, Tadeusz; Jazwinski, S. Michal; Czarny‐Ratajczak, Malwina Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗