Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain co...

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Veröffentlicht in:Nat Commun
Hauptverfasser: Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4519989/
https://ncbi.nlm.nih.gov/pubmed/26216346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8870
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