Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Autor:	Schrauwen, Isabelle, Valgaeren, Hanne, Tomas-Roca, Laura, Sommen, Manou, Altunoglu, Umut, Wesdorp, Mieke, Beyens, Matthias, Fransen, Erik, Nasir, Abdul, Vandeweyer, Geert, Schepers, Anne, Rahmoun, Malika, van Beusekom, Ellen, Huentelman, Matt J., Offeciers, Erwin, Dhooghe, Ingeborg, Huber, Alex, Van de Heyning, Paul, Zanetti, Diego, De Leenheer, Els M.R., Gilissen, Christian, Hoischen, Alexander, Cremers, Cor W., Verbist, Berit, de Brouwer, Arjan P.M., Padberg, George W., Pennings, Ronald, Kayserili, Hülya, Kremer, Hannie, Van Camp, Guy, van Bokhoven, Hans
Zdroj:	In Genetics in Medicine May 2019 21(5):1199-1208
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink