Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X

ConclusionWe reported novel compound heterozygous mutations inSERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X.

Source: Osteoporosis International - March 9, 2018 Category: Orthopaedics Source Type: research