Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

Autor: Xu, Cheng, Cassatella, Daniele, van der Sloot, Almer M., Quinton, Richard, Hauschild, Michael, De Geyter, Christian, Flück, Christa, Feller, Katrin, Bartholdi, Deborah, Nemeth, Attila, Halperin, Irene, Pekic Djurdjevic, Sandra, Maeder, Philippe, Papadakis, Georgios, Dwyer, Andrew A., Marino, Laura, Favre, Lucie, Pignatelli, Duarte, Niederländer, Nicolas J., Acierno, James, Pitteloud, Nelly
Zdroj: In Genetics in Medicine August 2018 20(8):872-881
Databáze: ScienceDirect
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