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Background Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). Case presentation In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood...
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