Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.-论文-万方医学网

第一作者： Edmund S,Cauley

第一单位： Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA.

作者： Edmund S,Cauley ^[1] ; Ahlam,Hamed ^[2] ; Inaam N,Mohamed ^[2] ; Maha,Elseed ^[2] ; Samantha,Martinez ^[1] ; Ashraf,Yahia ^[3] ; Fatima,Abozar ^[4] ; Rayan,Abubakr ^[5] ; Mahmoud,Koko ^[6] ; Liena,Elsayed ^[4] ; Xianhua,Piao ^[7] ; Mustafa A,Salih ^[8] ; M Chiara,Manzini ^[9]

作者单位： Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA. ^[1] Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ^[2] Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.;Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.;Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, Paris, France. ^[3] Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ^[4] Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan. ^[5] Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. ^[6] Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, 02115, MA, USA. ^[7] Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. ^[8] Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA. chiara.manzini@gmail.com. ^[9]

主题词畸形, 多发性(Abnormalities, Multiple);小脑(Cerebellum);儿童(Child);眼畸形(Eye Abnormalities);家庭卫生(Family Health);女(雌)性(Female);纯合子(Homozygote);人类(Humans);脑积水(Hydrocephalus);肾疾病, 囊性(Kidney Diseases, Cystic);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中脑(Mesencephalon);微管相关蛋白质类(Microtubule-Associated Proteins);突变(Mutation);系谱(Pedigree);表型(Phenotype);前脑(Prosencephalon);受体, G-蛋白偶联(Receptors, G-Protein-Coupled);视网膜(Retina);序列分析, DNA(Sequence Analysis, DNA);苏丹(Sudan);青年人(Young Adult)

DOI 10.1007/s10048-019-00577-2

PMID 30982090

发布时间 2022-12-07

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Neurogenetics

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Neurogenetics

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Neurogenetics

相关期刊

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