DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.-论文-万方医学网

第一作者： Maja,Sukalo

第一单位： Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

作者： Maja,Sukalo ^[1] ; Felix,Tilsen ^[1] ; Hülya,Kayserili ^[2] ; Dietmar,Müller ^[3] ; Beyhan,Tüysüz ^[4] ; Deborah M,Ruddy ^[5] ; Emma,Wakeling ^[6] ; Karen Helene,Ørstavik ^[7] ; Katie M,Snape ^[8] ; Richard,Trembath ^[9] ; Maryse,De Smedt ^[10] ; Nathalie,van der Aa ^[11] ; Martin,Skalej ^[12] ; Stefan,Mundlos ^[13] ; Wim,Wuyts ^[14] ; Laura,Southgate ^[15] ; Martin,Zenker ^[1]

作者单位： Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany. ^[1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul, Turkey.;Medical Genetics Department, School of Medicine, Koc University, Istanbul, Turkey. ^[2] Institut für Medizinische Genetik, Klinikum Chemnitz, Chemnitz, Germany. ^[3] Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey. ^[4] Department of Clinical Genetics, Guy's Hospital, London, UK. ^[5] North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK. ^[6] Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. ^[7] Department of Clinical Genetics, St. George's Healthcare NHS Trust, London, UK. ^[8] Department of Clinical Genetics, Guy's Hospital, London, UK.;Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. ^[9] Department of Medical Genetics, Leuven University Hospital, Leuven, Belgium. ^[10] Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium. ^[11] Institute of Neuroradiology, University Hospital Magdeburg, Magdeburg, Germany. ^[12] Institute for Medical and Human Genetics Charité, Universitätsmedizin Berlin and Max Planck Institute for Molecular Genetics Berlin, Berlin, Germany. ^[13] Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.;Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. ^[14] Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.;Division of Genetics and Molecular Medicine, King's College London, London, UK. ^[15]

医学主题词青少年(Adolescent);脑(Brain);儿童(Child);儿童, 学龄前(Child, Preschool);外胚层发育不良症(Ectodermal Dysplasia);眼畸形(Eye Abnormalities);女(雌)性(Female);基因, 隐性(Genes, Recessive);遗传关联研究(Genetic Association Studies);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);肢畸形, 先天性(Limb Deformities, Congenital);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变(Mutation);头皮皮肤病(Scalp Dermatoses);体层摄影术, X线计算机(Tomography, X-Ray Computed);青年人(Young Adult)

DOI 10.1002/humu.22795

PMID 25824905

发布时间 2015-05-20

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DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Human mutation

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Human mutation

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DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Human mutation

相似文献

同项目论文

Human mutation

相关期刊

检索历史清除