Article
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Journal of human genetics - 1 Mar 2016
Umair Muhammad, Hassan Annum, Jan Abid, Ahmad Farooq, Imran Muhammad, Samman Muhammad I, Basit Sulman, Ahmad Wasim
Abstract excerpt
Osteogenesis imperfecta (OI, MIM 610968) is a genetically and clinically heterogeneous disorder characterized by bone fragility. It is one of the rare forms of skeletal deformity caused by sequence variants in at least 14 different genes, including FKBP10 (MIM 607063) encoding protein FKBP65. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern....
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