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    Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta

    May 2023 in “ Frontiers in endocrinology
    Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan … Cecilia Giunta
    Studysummary The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
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