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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI. Terhal PA, et al. Among authors: creton m. Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14. Eur J Hum Genet. 2020. PMID: 31089205 Free PMC article.
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G. Monroe GR, et al. Among authors: creton ma. Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17. Eur J Hum Genet. 2016. PMID: 27530628 Free PMC article.
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. van den Boogaard MJ, et al. Among authors: creton m. J Med Genet. 2012 May;49(5):327-31. doi: 10.1136/jmedgenet-2012-100750. J Med Genet. 2012. PMID: 22581971 Free article.
[Is there more to hypodontia then missing teeth?].
Ross JN, Ruigrok LC, Fennis WMM, Cune MS, Rosenberg AJWP, van Nunen AB, Créton MA, Ploos van Amstel HK, van den Boogaard MJJH. Ross JN, et al. Among authors: creton ma. Ned Tijdschr Tandheelkd. 2023 Jun;130(6):277-286. doi: 10.5177/ntvt.2023.06.22098. Ned Tijdschr Tandheelkd. 2023. PMID: 37279496 Dutch.
21 results