Abstract
American Journal of Medical Genetics Part AVolume 161, Issue 3 p. 626-629 Research Letter Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate†‡§ Sascha Meyer, Corresponding Author Sascha Meyer [email protected] Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, Germany Section Neuropaediatrics, University Hospital of Saarland, Homburg, GermanyDepartment of Neonatology and Paediatrics, University Hospital of Saarland, Building 9, 66421 Homburg, Germany.Search for more papers by this authorGünther Löffler, Günther Löffler Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorMartin Gencik, Martin Gencik Diagenos, Gemeinschaftspraxis für Humangenetik, Osnabrück, GermanySearch for more papers by this authorPeter Fries, Peter Fries Clinic of Diagnostic and Interventional Radiology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorPanagiotis Papanagiotou, Panagiotis Papanagiotou Clinic of Diagnostic and Interventional Neuroradiology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorBarbara Oehl-Jaschkowitz, Barbara Oehl-Jaschkowitz Humangenetische Praxis, Homburg, GermanySearch for more papers by this authorLudwig Gortner, Ludwig Gortner Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, Germany Section Neuropaediatrics, University Hospital of Saarland, Homburg, GermanySearch for more papers by this author Sascha Meyer, Corresponding Author Sascha Meyer [email protected] Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, Germany Section Neuropaediatrics, University Hospital of Saarland, Homburg, GermanyDepartment of Neonatology and Paediatrics, University Hospital of Saarland, Building 9, 66421 Homburg, Germany.Search for more papers by this authorGünther Löffler, Günther Löffler Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorMartin Gencik, Martin Gencik Diagenos, Gemeinschaftspraxis für Humangenetik, Osnabrück, GermanySearch for more papers by this authorPeter Fries, Peter Fries Clinic of Diagnostic and Interventional Radiology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorPanagiotis Papanagiotou, Panagiotis Papanagiotou Clinic of Diagnostic and Interventional Neuroradiology, University Hospital of Saarland, Homburg, GermanySearch for more papers by this authorBarbara Oehl-Jaschkowitz, Barbara Oehl-Jaschkowitz Humangenetische Praxis, Homburg, GermanySearch for more papers by this authorLudwig Gortner, Ludwig Gortner Department of Paediatrics and Neonatology, University Hospital of Saarland, Homburg, Germany Section Neuropaediatrics, University Hospital of Saarland, Homburg, GermanySearch for more papers by this author First published: 07 February 2013 https://doi.org/10.1002/ajmg.a.35758 † How to Cite this Article: Meyer S, Löffler G, Gencik M, Fries P, Papanagiotou P, Oehl-Jaschkowitz B, Gortner L. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. 2013. Am J Med Genet Part A 161A: 626–629. ‡ Authors' contributions: Sascha Meyer, Günther Löffler, Ludwig Gortner were involved in patient care, contributed to making the diagnosis and were responsible for writing the manuscript. Peter Fries and Panagiotis Papanagiotou were responsible for data collection and performing all imaging studies. Barbara Oehl-Jaschkowitz and Martin Gencik were responsible for genetic analysis. § The authors have declared no conflict of interest. Read 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 onFacebookTwitterLinkedInRedditWechat Volume161, Issue3March 2013Pages 626-629 RelatedInformation
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