Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

@inproceedings{Horn2010IdentificationOF,
  title={Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits},
  author={Denise Horn and Johannes Kapeller and N{\'u}ria Rivera-Brugu{\'e}s and Ute Moog and Bettina Lorenz-Depiereux and Sebastian H. Eck and Maja Hempel and Janine Wagenstaller and Alex J T Gawthrope and Anthony P Monaco and Michael Bonin and Olaf Riess and Eva Wohlleber and Thomas Illig and Connie R. Bezzina and Andre Franke and Stephanie Spranger and Pablo Villavicencio-Lorini and Wenke Seifert and Jochen Rosenfeld and Eva Klopocki and Gudrun A Rappold and Tim Matthias Strom},
  booktitle={Human mutation},
  year={2010}
}
Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including… CONTINUE READING

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