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Patients with type V osteogenesis imperfecta (OI) are heterozygous for a dominant IFITM5 c.-14C&gt;T mutation, which adds five residues to the N terminus of bone-restricted interferon-induced transmembrane-like protein (BRIL), a transmembrane protein expressed in osteoblasts. Type V OI skeletal findings include hyperplastic callus formation, ossification of the forearm interosseous membrane, and dense metaphyseal bands.

Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression