Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome-Reference-Cited by-同舟云学术

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Published:2014-08-20 Issue:6 Volume:23 Page:753-760
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kuechler Alma,Zink Alexander M,Wieland Thomas,Lüdecke Hermann-Josef,Cremer Kirsten,Salviati Leonardo,Magini Pamela,Najafi Kimia,Zweier Christiane,Czeschik Johanna Christina,Aretz Stefan,Endele Sabine,Tamburrino Federica,Pinato Claudia,Clementi Maurizio,Gundlach Jasmin,Maylahn Carina,Mazzanti Laura,Wohlleber Eva,Schwarzmayr Thomas,Kariminejad Roxana,Schlessinger Avner,Wieczorek Dagmar,Strom Tim M,Novarino Gaia,Engels Hartmut

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014165.pdf

Reference32 articles.

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3. Rauch A, Wieczorek D, Graf E et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674–1682.

4. de Ligt J, Willemsen MH, van Bon BW et al: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921–1929.

5. He X, Sanders SJ, Liu L et al: Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013; 9: e1003671.

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