Article
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Nature communications - 28 Jul 2015
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
Abstract excerpt
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 containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific...
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