Publication Date:
2015-07-30
Description:
Article Immunodeficiency-centromeric instability-facial anomalies syndrome is a life threatening autosomal recessive disorder caused by mutations in DNMT3B and ZBTB24 . Here Thijssen et al. identify mutations in CDCA7 and HELLS in previously unexplained cases. Nature Communications doi: 10.1038/ncomms8870 Authors: Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J. L. F. Lemmers, Jessica C. de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. van Ostaijen-Ten Dam, Maarten J. D. van Tol, Corry Weemaes, Claire Francastel, Silvère M. van der Maarel, Hiroyuki Sasaki
Electronic ISSN:
2041-1723
Topics:
Biology
,
Chemistry and Pharmacology
,
Natural Sciences in General
,
Physics
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