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

Tjitske Kleefstra ,Hanka Venselaar ,Wendy A Van Zelst-Stams ,Louise Brueton ,Willy M Nillesen ,Alexander P.a Stegmann ,Margaret P Adam ,Arcadi Navarro ,C Davies ,Astrid Weber ,Hans Van Bokhoven ,A Micheil Innes ,Anita Rauch ,Meredith Wilson ,Martin Zenker ,Rolph Pfundt ,Marieke Van Dooren ,Helger G Yntema ,Antonio González-Meneses López ,Julie Mcgaughran ,Nicki Foulds ,Gunnar Houge ,Anne Turner ,Valérie Cormier‐Daire ,María Palomares‐Bralo ,Rosario Casalone ,Marjolein H Willemsen ,Han G Brunner

doi:10.1136/jmg.2008.062950

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

Tjitske Kleefstra , Hanka Venselaar + Show 26 more

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https://doi.org/10.1136/jmg.2008.062950

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#9q Subtelomeric Deletion Syndrome #Multiplex Ligation Dependent Probe Amplification + Show 8 more

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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...

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