Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

导出 OA

翻译打印收藏纠错

作者： Patrick S,Tarpey ^[1] ; F Lucy,Raymond ; Sarah,O'Meara ; Sarah,Edkins ; Jon,Teague ; Adam,Butler ; Ed,Dicks ; Claire,Stevens ; Calli,Tofts ; Tim,Avis ; Syd,Barthorpe ; Gemma,Buck ; Jennifer,Cole ; Kristian,Gray ; Kelly,Halliday ; Rachel,Harrison ; Katy,Hills ; Andrew,Jenkinson ; David,Jones ; Andrew,Menzies ; Tatiana,Mironenko ; Janet,Perry ; Keiran,Raine ; David,Richardson ; Rebecca,Shepherd ; Alexandra,Small ; Jennifer,Varian ; Sofie,West ; Sara,Widaa ; Uma,Mallya ; Jenny,Moon ; Ying,Luo ; Susan,Holder ; Sarah F,Smithson ; Jane A,Hurst ; Jill,Clayton-Smith ; Bronwyn,Kerr ; Jackie,Boyle ; Marie,Shaw ; Lucianne,Vandeleur ; Jayson,Rodriguez ; Rachel,Slaugh ; Douglas F,Easton ; Richard,Wooster ; Martin,Bobrow ; Anand K,Srivastava ; Roger E,Stevenson ; Charles E,Schwartz ; Gillian,Turner ; Jozef,Gecz ; P Andrew,Futreal ; Michael R,Stratton ; Michael,Partington

作者单位： Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. ^[1]