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Publikováno v:
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease. 16(4)
Congenital contractural arachnodactyly (CCA) is caused by mutations within fibrillin-2 (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongat