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A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

2020; Wiley; Volume: 35; Issue: 5 Linguagem: Inglês

10.1002/mds.28023

1531-8257

Ziyad S. Haidar, Nadine Jalkh, Sandra Corbani, Joelle Abou‐Ghoch, Ali Fawaz, Cybel Mehawej, Éliane Chouery,

CRISPR and Genetic Engineering

Movement DisordersVolume 35, Issue 5 p. 896-899 Letters: New Observations A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome Zahraa Haidar MSc, Zahraa Haidar MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon Aix Marseille Univ, Inserm, Marseille Medical Genetics of Aix Marseille University, U 1251 Marseille, FranceSearch for more papers by this authorNadine Jalkh PhD, Nadine Jalkh PhD Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorSandra Corbani MSc, Sandra Corbani MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorJoelle Abou-Ghoch MSc, Joelle Abou-Ghoch MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorAli Fawaz MD, Ali Fawaz MD Neuropediatrics Department, Lebanese University, Beirut, LebanonSearch for more papers by this authorCybel Mehawej PhD, Cybel Mehawej PhD Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorEliane Chouery PhD, Corresponding Author Eliane Chouery PhD eliane.chouery@usj.edu.lb orcid.org/0000-0002-6257-6609 Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonCorrespondence to: Dr. Eliane Chouery, Unité de Génétique Médicale, Faculté de Médecine, Campus de l'innovation et du sport, rue de Damas, Université Saint-Joseph, Beirut, Lebanon; E-mail: eliane.chouery@usj.edu.lbSearch for more papers by this author Zahraa Haidar MSc, Zahraa Haidar MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon Aix Marseille Univ, Inserm, Marseille Medical Genetics of Aix Marseille University, U 1251 Marseille, FranceSearch for more papers by this authorNadine Jalkh PhD, Nadine Jalkh PhD Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorSandra Corbani MSc, Sandra Corbani MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorJoelle Abou-Ghoch MSc, Joelle Abou-Ghoch MSc Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorAli Fawaz MD, Ali Fawaz MD Neuropediatrics Department, Lebanese University, Beirut, LebanonSearch for more papers by this authorCybel Mehawej PhD, Cybel Mehawej PhD Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonSearch for more papers by this authorEliane Chouery PhD, Corresponding Author Eliane Chouery PhD eliane.chouery@usj.edu.lb orcid.org/0000-0002-6257-6609 Medical Genetics Unit, Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, LebanonCorrespondence to: Dr. Eliane Chouery, Unité de Génétique Médicale, Faculté de Médecine, Campus de l'innovation et du sport, rue de Damas, Université Saint-Joseph, Beirut, Lebanon; E-mail: eliane.chouery@usj.edu.lbSearch for more papers by this author First published: 20 March 2020 https://doi.org/10.1002/mds.28023Citations: 3 Cybel Mehawej and Eliane Chouery contributed equally to this work. Funding agencies: This work (samples collection, analysis, and interpretation of data) was supported by grants from the Research Council of Saint Joseph University, Beirut, Lebanon (FM333). The authors did not receive any personal funding. Relevant conflicts of interests/financial disclosures: Nothing to report. 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 Volume35, Issue5May 2020Pages 896-899 RelatedInformation