CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features

移码突变 智力残疾 突变 遗传学 医学 生物 皮肤病科 儿科 基因
作者
Gregor Bauer,Rebecca Buchert,Tobias B. Haack,Inga Harting,Alexander Gutschalk
出处
期刊:Clinical Genetics [Wiley]
卷期号:102 (1): 80-81 被引量:4
标识
DOI:10.1111/cge.14135
摘要

Clinical GeneticsEarly View LETTER TO THE EDITOR CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features Gregor Bauer, Corresponding Author Gregor Bauer gregor.bauer@med.uni-heidelberg.de orcid.org/0000-0002-5805-7128 Department of Neurology, University of Heidelberg, Heidelberg, Germany Correspondence Gregor Bauer, Department of Neurology, University of Heidelberg, Heidelberg, Germany. Email: gregor.bauer@med.uni-heidelberg.deSearch for more papers by this authorRebecca Buchert, Rebecca Buchert Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorTobias B. Haack, Tobias B. Haack Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorInga Harting, Inga Harting Department of Neuroradiology, University of Heidelberg, Heidelberg, GermanySearch for more papers by this authorAlexander Gutschalk, Alexander Gutschalk Department of Neurology, University of Heidelberg, Heidelberg, GermanySearch for more papers by this author Gregor Bauer, Corresponding Author Gregor Bauer gregor.bauer@med.uni-heidelberg.de orcid.org/0000-0002-5805-7128 Department of Neurology, University of Heidelberg, Heidelberg, Germany Correspondence Gregor Bauer, Department of Neurology, University of Heidelberg, Heidelberg, Germany. Email: gregor.bauer@med.uni-heidelberg.deSearch for more papers by this authorRebecca Buchert, Rebecca Buchert Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorTobias B. Haack, Tobias B. Haack Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorInga Harting, Inga Harting Department of Neuroradiology, University of Heidelberg, Heidelberg, GermanySearch for more papers by this authorAlexander Gutschalk, Alexander Gutschalk Department of Neurology, University of Heidelberg, Heidelberg, GermanySearch for more papers by this author First published: 03 April 2022 https://doi.org/10.1111/cge.14135Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Open Research PEER REVIEW The peer review history for this article is available at https://publons.com/publon/10.1111/cge.14135. DATA AVAILABILITY STATEMENT All data are included in the letter. Early ViewOnline Version of Record before inclusion in an issue RelatedInformation
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