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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: ferster a. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: ferster a. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
243 results