Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining...

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Main Authors: de Greef, Jessica C., Wang, Jun, Balog, Judit, den Dunnen, Johan T., Frants, Rune R., Straasheijm, Kirsten R., Aytekin, Caner, van der Burg, Mirjam, Duprez, Laurence, Ferster, Alina, Gennery, Andrew R., Gimelli, Giorgio, Reisli, Ismail, Schuetz, Catharina, Schulz, Ansgar, Smeets, Dominique F.C.M., Sznajer, Yves, Wijmenga, Cisca, van Eggermond, Marja C., van Ostaijen-ten Dam, Monique M., Lankester, Arjan C., van Tol, Maarten J.D., van den Elsen, Peter J., Weemaes, Corry M., van der Maarel, Silvère M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113345/
https://ncbi.nlm.nih.gov/pubmed/21596365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.018
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