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10.1038/ncomms8870 http://scihub22266oqcxt.onion/10.1038/ncomms8870 C4519989!4519989 !26216346     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26216346 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Nat+Commun 2015 ; 6 (ä): 7870 Nephropedia Template TP {{tp|p=26216346 |t=2015. Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome |pdf=|usr=}}{{26216346 }} gab.com Text Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip 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 genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype. Twit Text FOAVip Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip English Wikipedia <ref>{{Cite pmid|26216346 }}</ref> Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome #MMPMID26216346 Thijssen PE ; Ito Y ; Grillo G ; Wang J ; Velasco G ; Nitta H ; Unoki M ; Yoshihara M ; Suyama M ; Sun Y ; Lemmers RJ ; de Greef JC ; Gennery A ; Picco P ; Kloeckener-Gruissem B ; Güngör T ; Reisli I ; Picard C ; Kebaili K ; Roquelaure B ; Iwai T ; Kondo I ; Kubota T ; van Ostaijen-Ten Dam MM ; van Tol MJ ; Weemaes C ; Francastel C ; van der Maarel SM ; Sasaki H Nat Commun 2015[Jul]; 6 (ä): 7870 PMID26216346 show ga 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 genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype. |Adolescent [MESH] |Adult [MESH] |Child [MESH] |Child, Preschool [MESH] |DNA Helicases/*genetics [MESH] |Face/*abnormalities [MESH] |Female [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*genetics [MESH] |Infant [MESH] |Male [MESH] |Mutation [MESH] |Mutation, Missense [MESH] |Nuclear Proteins/*genetics [MESH] |Primary Immunodeficiency Diseases [MESH]Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric inst(epmc).pdf DeepDyve Pubget Overpricing