Title: <i>ADA2</i> deficiency due to a novel structural variation in 22q11.1
Abstract: Clinical GeneticsVolume 95, Issue 6 p. 732-733 LETTER TO THE EDITOR ADA2 deficiency due to a novel structural variation in 22q11.1 Alice Grossi, Alice Grossi UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorRoberto Cusano, Roberto Cusano CRS4, Science and Technology Park Polaris, Pula, ItalySearch for more papers by this authorMarta Rusmini, Marta Rusmini UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorFederica Penco, Federica Penco UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorFrancesca Schena, Francesca Schena UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorRosa A. Podda, Rosa A. Podda Ospedale Brotzu and Università di Cagliari, Cagliari, ItalySearch for more papers by this authorRoberta Caorsi, Roberta Caorsi UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorMarco Gattorno, Marco Gattorno UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorPaolo Uva, Paolo Uva CRS4, Science and Technology Park Polaris, Pula, ItalySearch for more papers by this authorIsabella Ceccherini, Corresponding Author Isabella Ceccherini [email protected] orcid.org/0000-0001-8732-1955 UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy Correspondence Isabella Ceccherini, UOC Genetica Medica, Istituto Giannina Gaslini, Genoa, Italy Email: [email protected] for more papers by this author Alice Grossi, Alice Grossi UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorRoberto Cusano, Roberto Cusano CRS4, Science and Technology Park Polaris, Pula, ItalySearch for more papers by this authorMarta Rusmini, Marta Rusmini UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorFederica Penco, Federica Penco UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorFrancesca Schena, Francesca Schena UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorRosa A. Podda, Rosa A. Podda Ospedale Brotzu and Università di Cagliari, Cagliari, ItalySearch for more papers by this authorRoberta Caorsi, Roberta Caorsi UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorMarco Gattorno, Marco Gattorno UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorPaolo Uva, Paolo Uva CRS4, Science and Technology Park Polaris, Pula, ItalySearch for more papers by this authorIsabella Ceccherini, Corresponding Author Isabella Ceccherini [email protected] orcid.org/0000-0001-8732-1955 UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy Correspondence Isabella Ceccherini, UOC Genetica Medica, Istituto Giannina Gaslini, Genoa, Italy Email: [email protected] for more papers by this author First published: 28 March 2019 https://doi.org/10.1111/cge.13518Citations: 9 Peer Review The peer review history for this article is available at https://publons.com/publon/10.1111/cge.13518/ Alice Grossi and Roberto Cusano are co-first authors; Paolo Uva and Isabella Ceccherini are co-last authors. Data Availability Statement: Data Sharing: Genomic data reported here are available upon request. Moreover, the pathogenic structural variation has been submitted to the ClinVar Submission Portal. 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 Graphical Abstract CONFLICTS OF INTEREST Nothing to declare. Open Research DATA AVAILABILITY STATEMENT Data Sharing: Genomic data reported here are available upon request. Moreover, the pathogenic structural variation has been submitted to the ClinVar Submission Portal. Citing Literature Volume95, Issue6June 2019Pages 732-733 RelatedInformation
Publication Year: 2019
Publication Date: 2019-03-28
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 12
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