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A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability,short stature and speech delay |
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| Authors: | Cí ntia B. Santos-Rebouç as,Natalia Fintelman-Rodrigues,Lars R. Jensen,Andreas W. Kuss,Má rcia G. Ribeiro,Má rio Campos Jr.,Jussara M. Santos,Má rcia M.G. Pimentel |
| Affiliation: | 1. Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil;2. Department for Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany;3. Clinical Genetics Service, IPPMG, Federal University of Rio de Janeiro, Brazil |
| Abstract: | |
| Keywords: | X-linked intellectual disability JARID1C KDM5C Histone demethylase Epigenetics Chromatin remodeling |
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