Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
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| Title: | Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. |
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| Authors: | Cauley ES; Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA., Hamed A; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohamed IN; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed M; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Martinez S; Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA., Yahia A; 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., Abozar F; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abubakr R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Piao X; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, 02115, MA, USA., Salih MA; Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Manzini MC; 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. |
| Source: | Neurogenetics [Neurogenetics] 2019 May; Vol. 20 (2), pp. 91-98. Date of Electronic Publication: 2019 Apr 13. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1364-6753 |
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| DOI: | 10.1007/s10048-019-00577-2 |
