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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: de leenheer emr. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925
Etiological approach in patients with unidentified hearing loss.
Deklerck AN, Acke FR, Janssens S, De Leenheer EM. Deklerck AN, et al. Among authors: de leenheer em. Int J Pediatr Otorhinolaryngol. 2015 Feb;79(2):216-22. doi: 10.1016/j.ijporl.2014.12.012. Epub 2014 Dec 16. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25555640
Hearing impairment in Stickler syndrome: a systematic review.
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Acke FR, et al. Among authors: de leenheer em. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Orphanet J Rare Dis. 2012. PMID: 23110709 Free PMC article. Review.
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