The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

@article{Frdric2009TheFG,
  title={The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.},
  author={M{\'e}lissa Yana Fr{\'e}d{\'e}ric and Christine Monino and Christoph Marschall and Dalil Hamroun and Laurence Faivre and Guillaume Jondeau and Hanns-Georg Klein and Luitgard Neumann and Elodie Gautier and Christine Binquet and Cheryl L Maslen and Maurice Godfrey and Prateek Gupta and Dianna Milewicz and Catherine Boileau and Mireille Claustres and Christophe B{\'e}roud and Gwena{\"e}lle Collod-B{\'e}roud},
  journal={Human mutation},
  year={2009},
  volume={30 2},
  pages={181-90}
}
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 their respective functions and better understand the multitude of diseases in which… CONTINUE READING

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