Dergi makalesi Açık Erişim

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

2019    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.; De Leenheer, Els M. R.

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.