Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney international - 1 Apr 2014
Gee Heon Yung, Otto Edgar A, Hurd Toby W, Ashraf Shazia, Chaki Moumita, Cluckey Andrew, Vega-Warner Virginia, Saisawat Pawaree, Diaz Katrina A, Fang Humphrey, Kohl Stefan, Allen Susan J, Airik Rannar, Zhou Weibin, Ramaswami Gokul, Janssen Sabine, Fu Clementine, Innis Jamie L, Weber Stefanie, Vester Udo, Davis Erica E, Katsanis Nicholas, Fathy Hanan M, Jeck Nikola, Klaus Gunther, Nayir Ahmet, Rahim Khawla A, Al Attrach Ibrahim, Al Hassoun Ibrahim, Ozturk Savas, Drozdz Dorota, Helmchen Udo, O'Toole John F, Attanasio Massimo, Lewis Richard A, Nürnberg Gudrun, Nürnberg Peter, Washburn Joseph, MacDonald James, Innis Jeffrey W, Levy Shawn, Hildebrandt Friedhelm
Abstract excerpt
Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children...
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