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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Schrauwen I, et al. Among authors: padberg gw. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925 Free article.
Familial spastic paraplegia: evidence for a fourth locus.
Bruyn RP, van Veen MM, Kremer H, Scheltens PH, Padberg GW. Bruyn RP, et al. Among authors: padberg gw. Clin Neurol Neurosurg. 1997 May;99(2):87-90. doi: 10.1016/s0303-8467(97)00602-1. Clin Neurol Neurosurg. 1997. PMID: 9213050
184 results