Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Abstract

BACKGROUND The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In addition, congenital heart defects, urogenital defects, epilepsy and behavioural problems are frequently observed. The syndrome can be either caused by a submicroscopic 9q34.3… (More)
DOI: 10.1136/jmg.2008.062950

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@article{Kleefstra2009FurtherCA, title={Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.}, author={Tjitske Kleefstra and Wendy A. G. van Zelst-Stams and Willy M. Nillesen and Val{\'e}rie Cormier-Daire and Gunnar Houge and Nicola C. Foulds and Marleen Van Dooren and Marjolein H. Willemsen and Rolph Pfundt and A Turner and Michael J. Wilson and Julie M McGaughran and Anita Rauch and Martin Zenker and Margaret P Adam and Micheil A Innes and Charlotte E. Davies and Antonio Gonz{\'a}lez-Meneses Lopez and Rosario Casalone and Alberto Weber and Louise A Brueton and Alicia Delicado Navarro and Maria Palomares Bralo and Hanka Venselaar and Sander Stegmann and Helger G. Yntema and Hans van Bokhoven and Han G. Brunner}, journal={Journal of medical genetics}, year={2009}, volume={46 9}, pages={598-606} }