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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.
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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  Data: Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
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  Data: <searchLink fieldCode="AU" term="%22Cauley+ES%22">Cauley ES</searchLink>; Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA.<br /><searchLink fieldCode="AU" term="%22Hamed+A%22">Hamed A</searchLink>; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Mohamed+IN%22">Mohamed IN</searchLink>; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Elseed+M%22">Elseed M</searchLink>; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Martinez+S%22">Martinez S</searchLink>; Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA.<br /><searchLink fieldCode="AU" term="%22Yahia+A%22">Yahia A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abozar+F%22">Abozar F</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Abubakr+R%22">Abubakr R</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Koko+M%22">Koko M</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Elsayed+L%22">Elsayed L</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Piao+X%22">Piao X</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, 02115, MA, USA.<br /><searchLink fieldCode="AU" term="%22Salih+MA%22">Salih MA</searchLink>; Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Manzini+MC%22">Manzini MC</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2019 May; Vol. 20 (2), pp. 91-98. <i>Date of Electronic Publication: </i>2019 Apr 13.
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