SERPINH1 and osteogenesis imperfecta: Homozygous missense mutation, point mutation or deletion in SERPINH1 (c.233T > C, p.L78P,79 c.338_357del22,80 c.314_325del p,81 (c.149 T > G, p. L50R,c.1214 G > A, p. R405H82), p.(R222S)83) has been reported to cause HSP47 deficiency manifesting severe OI with blue sclerae and dentogenesis imperfect.