Mutation producing alternative splicing
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Zolezzi, F.; Valli, M.; Clementi, M.; Mammi, I.; Cetta, G.; Pignatti, P. F.; Mot
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Article
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1997
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John Wiley and Sons
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English
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## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo