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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

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Title: A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Authors: Li Z; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Schonberg R; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA., Guidugli L; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Johnson AK; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Arnovitz S; Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL, USA., Yang S; Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA., Scafidi J; 1] The George Washington University Medical Center, Washington, DC, USA [2] Division of Neurology, Children's National Health System, Washington, DC, USA., Summar ML; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA., Vezina G; 1] The George Washington University Medical Center, Washington, DC, USA [2] Department of Radiology, Children's National Health System, Washington, DC, USA., Das S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Chapman K; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA., del Gaudio D; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Source: Journal of human genetics [J Hum Genet] 2015 Jul; Vol. 60 (7), pp. 363-9. Date of Electronic Publication: 2015 Mar 26.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
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  Data: <searchLink fieldCode="AU" term="%22Li+Z%22">Li Z</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Schonberg+R%22">Schonberg R</searchLink>; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Guidugli+L%22">Guidugli L</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Johnson+AK%22">Johnson AK</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Arnovitz+S%22">Arnovitz S</searchLink>; Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Yang+S%22">Yang S</searchLink>; Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Scafidi+J%22">Scafidi J</searchLink>; 1] The George Washington University Medical Center, Washington, DC, USA [2] Division of Neurology, Children's National Health System, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Summar+ML%22">Summar ML</searchLink>; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Vezina+G%22">Vezina G</searchLink>; 1] The George Washington University Medical Center, Washington, DC, USA [2] Department of Radiology, Children's National Health System, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Das+S%22">Das S</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Chapman+K%22">Chapman K</searchLink>; 1] Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA [2] The George Washington University Medical Center, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22del+Gaudio+D%22">del Gaudio D</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2015 Jul; Vol. 60 (7), pp. 363-9. <i>Date of Electronic Publication: </i>2015 Mar 26.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/jhg.2015.31
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              Text: 2015 Jul
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