Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families
Author:
Funder
Department of Science and Technology of Liaoning Province
Publisher
Elsevier BV
Reference53 articles.
1. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype;Gupta;Hum. Mutat.,2002
2. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes;Lee;Nature,1991
3. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991
4. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The international Marfan syndrome collaborative study;Tsipouras;N. Engl. J. Med.,1992
5. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly;Putnam;Nat. Genet.,1995
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