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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequenc...

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發表在:Eur J Hum Genet
Main Authors: Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.
格式: Artigo
語言:Inglês
出版: Springer International Publishing 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777496/
https://ncbi.nlm.nih.gov/pubmed/30809043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0362-0
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