Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Prateek A. Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow Keong Thong, Lesley C. Adès, Dianna M. Milewicz

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Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology