Article
Copy number variants in patients with short stature.
European journal of human genetics : EJHG - 1 May 2014
van Duyvenvoorde Hermine A, Lui Julian C, Kant Sarina G, Oostdijk Wilma, Gijsbers Antoinet C J, Hoffer Mariëtte J V, Karperien Marcel, Walenkamp Marie J E, Noordam Cees, Voorhoeve Paul G, Mericq Verónica, Pereira Alberto M, Claahsen-van de Grinten Hedi L, van Gool Sandy A, Breuning Martijn H, Losekoot Monique, Baron Jeffrey, Ruivenkamp Claudia A L, Wit Jan M
Abstract excerpt
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel...
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