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

Tarih
2019
Yazar
Schepers, Anne
Schrauwen, Isabelle
Valgaeren, Hanne
Tomas-Roca, Laura
Sommen, Manou
Wesdorp, Mieke
Beyens, Matthias
Fransen, Erik
Nasir, Abdul
Vandeweyer, Geert
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, Hulya
Kremer, Hannie
Van Camp, Guy
van Bokhoven, Hans
Altunoglu, Umut
Üst veri
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Özet
Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.
Bağlantı
http://hdl.handle.net/20.500.12627/100203
https://doi.org/10.1038/s41436-018-0300-5
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