Extended spectrum of MBD5 mutations in neurodevelopmental disorders

@article{Bonnet2013ExtendedSO,
  title={Extended spectrum of MBD5 mutations in neurodevelopmental disorders},
  author={C{\'e}line Bonnet and Asma Ali Khan and Emmanuel Bresso and Charl{\`e}ne Vigouroux and Myl{\`e}ne B{\'e}ri and Sarah Lejczak and B{\'e}n{\'e}dicte Deemer and Joris Loup Andrieux and Christophe Philippe and Anne Moncla and Irina Giurgea and Marie-Dominique Devignes and Bruno P. Leheup and Philippe Jonveaux},
  journal={European Journal of Human Genetics},
  year={2013},
  volume={21},
  pages={1457-1461}
}
Intellectual disability (ID) is a clinical sign reflecting diverse neurodevelopmental disorders that are genetically and phenotypically heterogeneous. Just recently, partial or complete deletion of methyl-CpG-binding domain 5 (MBD5) gene has been implicated as causative in the phenotype associated with 2q23.1 microdeletion syndrome. In the course of systematic whole-genome screening of individuals with unexplained ID by array-based comparative genomic hybridization, we identified de novo… CONTINUE READING
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