Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
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DOI: 10.1186/s12929-018-0481-x
Abstract: IntroductionOsteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations… read more here.
Keywords: mutation g324c; imperfecta; novel mutation; family ... See more keywords