Impaired bone matrix turnover with selective small bone fragility in a child with TENT5A-associated osteogenesis imperfecta
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Osteogenesis imperfecta (OI) encompasses a genetically diverse spectrum of skeletal dysplasias, commonly linked to pathogenic variants in COL1A1 and COL1A2. Emerging data identify terminal nucleotidyltransferase 5A (TENT5A)-a noncanonical cytoplasmic poly(A) p... ...
