Article
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Human mutation - 1 Feb 2009
Frédéric Melissa Yana, Monino Christine, Marschall Christoph, Hamroun Dalil, Faivre Laurence, Jondeau Guillaume, Klein Hanns-Georg, Neumann Luitgard, Gautier Elodie, Binquet Christine, Maslen Cheryl, Godfrey Maurice, Gupta Prateek, Milewicz Dianna, Boileau Catherine, Claustres Mireille, Béroud Christophe, Collod-Béroud Gwenaëlle
Abstract excerpt
Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend...
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