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

dc.contributor.authorSchepers, Anne
dc.contributor.authorSchrauwen, Isabelle
dc.contributor.authorValgaeren, Hanne
dc.contributor.authorTomas-Roca, Laura
dc.contributor.authorSommen, Manou
dc.contributor.authorWesdorp, Mieke
dc.contributor.authorBeyens, Matthias
dc.contributor.authorFransen, Erik
dc.contributor.authorNasir, Abdul
dc.contributor.authorVandeweyer, Geert
dc.contributor.authorRahmoun, Malika
dc.contributor.authorvan Beusekom, Ellen
dc.contributor.authorHuentelman, Matt J.
dc.contributor.authorOffeciers, Erwin
dc.contributor.authorDhooghe, Ingeborg
dc.contributor.authorHuber, Alex
dc.contributor.authorVan de Heyning, Paul
dc.contributor.authorZanetti, Diego
dc.contributor.authorDe Leenheer, Els M. R.
dc.contributor.authorGilissen, Christian
dc.contributor.authorHoischen, Alexander
dc.contributor.authorCremers, Cor W.
dc.contributor.authorVerbist, Berit
dc.contributor.authorde Brouwer, Arjan P. M.
dc.contributor.authorPadberg, George W.
dc.contributor.authorPennings, Ronald
dc.contributor.authorKayserili, Hulya
dc.contributor.authorKremer, Hannie
dc.contributor.authorVan Camp, Guy
dc.contributor.authorvan Bokhoven, Hans
dc.contributor.authorAltunoglu, Umut
dc.date.accessioned2021-03-05T07:37:29Z
dc.date.available2021-03-05T07:37:29Z
dc.date.issued2019
dc.identifier.citationSchrauwen I., Valgaeren H., Tomas-Roca L., Sommen M., Altunoglu U., Wesdorp M., Beyens M., Fransen E., Nasir A., Vandeweyer G., et al., "Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis", GENETICS IN MEDICINE, cilt.21, ss.1199-1208, 2019
dc.identifier.issn1098-3600
dc.identifier.othervv_1032021
dc.identifier.otherav_94c7ce79-7b03-4ff8-95a6-75d220999cac
dc.identifier.urihttp://hdl.handle.net/20.500.12627/100203
dc.identifier.urihttps://doi.org/10.1038/s41436-018-0300-5
dc.description.abstractPurpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleVariants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
dc.typeMakale
dc.relation.journalGENETICS IN MEDICINE
dc.contributor.departmentUniv Antwerp , ,
dc.identifier.volume21
dc.identifier.issue5
dc.identifier.startpage1199
dc.identifier.endpage1208
dc.contributor.firstauthorID264240


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