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

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Bibliographic Details
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
Description
ISSN:1435-232X
DOI:10.1038/jhg.2015.31