GeneticsbioRxivPreprint
COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay Catherine Burrage, Aurélie Clément…·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.