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Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

2016; Wiley; Volume: 170; Issue: 6 Linguagem: Inglês

10.1002/ajmg.a.37641

1552-4833

Małgorzata Krajewska‐Walasek, Dorota Jurkiewicz, Dorota Piekutowska‐Abramczuk, Marzena Kucharczyk, Krystyńa Chrzańowska, Aleksandra Jezela‐Stanek, Elżbieta Ciara,

RNA regulation and disease

American Journal of Medical Genetics Part AVolume 170, Issue 6 p. 1647-1650 Research Letter Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene Małgorzata Krajewska-Walasek, Małgorzata Krajewska-Walasek Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorDorota Jurkiewicz, Dorota Jurkiewicz Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorDorota Piekutowska-Abramczuk, Dorota Piekutowska-Abramczuk Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorMarzena Kucharczyk, Marzena Kucharczyk Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorKrystyna H. Chrzanowska, Krystyna H. Chrzanowska Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorAleksandra Jezela-Stanek, Corresponding Author Aleksandra Jezela-Stanek Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland Correspondence to: Aleksandra Jezela-Stanek, Department of Medical Genetics, Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland. E-mail: jezela@gmail.comSearch for more papers by this authorElżbieta Ciara, Elżbieta Ciara Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this author Małgorzata Krajewska-Walasek, Małgorzata Krajewska-Walasek Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorDorota Jurkiewicz, Dorota Jurkiewicz Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorDorota Piekutowska-Abramczuk, Dorota Piekutowska-Abramczuk Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorMarzena Kucharczyk, Marzena Kucharczyk Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorKrystyna H. Chrzanowska, Krystyna H. Chrzanowska Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorAleksandra Jezela-Stanek, Corresponding Author Aleksandra Jezela-Stanek Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland Correspondence to: Aleksandra Jezela-Stanek, Department of Medical Genetics, Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland. E-mail: jezela@gmail.comSearch for more papers by this authorElżbieta Ciara, Elżbieta Ciara Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this author First published: 31 March 2016 https://doi.org/10.1002/ajmg.a.37641Citations: 11 Conflict of interest: none. 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 Citing Literature Volume170, Issue6June 2016Pages 1647-1650 RelatedInformation