Article
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Journal of medical genetics - 1 Sept 2009
Kleefstra T, van Zelst-Stams W A, Nillesen W M, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen M H, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam M P, Innes M, Davies C, López A González-Meneses, Casalone R, Weber A, Brueton L A, Navarro A Delicado, Bralo M Palomares, Venselaar H, Stegmann S P A, Yntema H G, van Bokhoven H, Brunner H G
Abstract excerpt
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 deletion or by intragenic EHMT1 mutations leading to...
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