COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay Catherine Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain, Ingo Grafe, Daryl A. Scott, Jill Anne Rosenfeld, Vernon Reid Sutton, Marwan S. Shinawi, Ghayda Mirzaa, Catherine J DeVile, Rowenna Roberts, Alistair Duncan Calder, , Brendan Lee
This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.
bioRxiv · Sep 14, 2020 · PreprintGenetics