hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018
Woods Steven
, Harley Peter
, Soul Jamie
, Kamprom Ni
, Bates Nicola
, Wang Qi
, Mortier Geert
, Hardingham Tim
, Kimber Susan
Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...