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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.
{ "DOI": "10.1038/s41436-018-0300-5", "abstract": "Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.", "author": [ { "family": "Schrauwen", "given": " Isabelle" }, { "family": "Valgaeren", "given": " Hanne" }, { "family": "Tomas-Roca", "given": " Laura" }, { "family": "Sommen", "given": " Manou" }, { "family": "Altunoglu", "given": " Umut" }, { "family": "Wesdorp", "given": " Mieke" }, { "family": "Beyens", "given": " Matthias" }, { "family": "Fransen", "given": " Erik" }, { "family": "Nasir", "given": " Abdul" }, { "family": "Vandeweyer", "given": " Geert" }, { "family": "Schepers", "given": " Anne" }, { "family": "Rahmoun", "given": " Malika" }, { "family": "van Beusekom", "given": " Ellen" }, { "family": "Huentelman", "given": " Matt J." }, { "family": "Offeciers", "given": " Erwin" }, { "family": "Dhooghe", "given": " Ingeborg" }, { "family": "Huber", "given": " Alex" }, { "family": "Van de Heyning", "given": " Paul" }, { "family": "Zanetti", "given": " Diego" }, { "family": "De Leenheer", "given": " Els M. R." }, { "family": "De Leenheer", "given": " Els M. R." } ], "container_title": "GENETICS IN MEDICINE", "id": "70275", "issue": "5", "issued": { "date-parts": [ [ 2019, 1, 1 ] ] }, "page": "1199-1208", "title": "Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis", "type": "article-journal", "volume": "21" }
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