Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

@article{Hoyer2012HaploinsufficiencyOA,
  title={Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.},
  author={Juliane Hoyer and Arif B. Ekici and Sabine U Endele and Bernt Popp and Christiane Zweier and Antje Wiesener and Eva Wohlleber and Andreas Dufke and Eva Rossier and Corinna Petsch and Markus Zweier and Ina Goehring and Alexander Michael Zink and Gudrun A Rappold and Evelin Schr{\"o}ck and Dagmar Wieczorek and Olaf Riess and Hartmut Engels and Anita Rauch and Andr{\'e} Reis},
  journal={American journal of human genetics},
  year={2012},
  volume={90 3},
  pages={565-72}
}
Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genes have been identified in X-linked, autosomal-recessive, or syndromic types of ID, the establishment of an etiological basis remains a difficult task in unspecific, sporadic cases. Just recently, de novo mutations in SYNGAP1, STXBP1, MEF2C, and GRIN2B were reported as relatively common causes of ID in… CONTINUE READING
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