TMEM38B and osteogenesis imperfecta type 3: The truncating deletion of exon 4 of the TMEM38B gene was reported in the literature as the first known cause of OI type XIV, an autosomal recessive form of OI3,7 Subsequently, point mutations at various positions in TMEM38B have been reported8,9 The splice site variant of c.660+1 G > A described in this case is a rare variation.