Bone Abstracts

Objectives: Osteogenesis imperfecta (OI) is a relatively common skeletal dysplasia characterized by bone fragility, mainly resulting from mutations in the COL1A1 and COL1A2 genes. Phenotype–genotype correlation is not fully uncovered in OI. Additionally, more than ten genes have been found to be responsible for OI. In the current study, we determine mutations in patients with OI using a targeted exome sequencing and examine a phenotype–genotype correlation.<p cla...

Background: Hypophosphatasia (HPP) is characterized by defective mineralization of bone and/or teeth in the presence of low serum alkaline phosphatase (ALP) activity and caused by mutations in the ALPL gene encoding tissue-nonspecific ALP. Odontohypophosphatasia (odonto HPP) is the mildest form of hypophosphatasia and characterized by dental complications without abnormalities of the skeleton system.Objectives: We aimed to investigate biochemical and gen...