Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluatio...
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
About this item
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Author / Creator
Giovenino, Chiara , Trajkova, Slavica , Pavinato, Lisa , Cardaropoli, Simona , Pullano, Verdiana , Ferrero, Enza , Sukarova-Angelovska, Elena , Carestiato, Silvia , Salmin, Paola , Rinninella, Antonina , Battaglia, Anthony , Bertoli, Luca , Fadda, Antonio , Palermo, Flavia , Carli, Diana , Mussa, Alessandro , Dimartino, Paola , Bruselles, Alessandro , Froukh, Tawfiq , Mandrile, Giorgia , Pasini, Barbara , De Rubeis, Silvia , Buxbaum, Joseph D. , Pippucci, Tommaso , Tartaglia, Marco , Rossato, Marzia , Delledonne, Massimo , Ferrero, Giovanni Battista and Brusco, Alfredo
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES). In th...
Alternative Titles
Full title
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Authors, Artists and Contributors
Author / Creator
Trajkova, Slavica
Pavinato, Lisa
Cardaropoli, Simona
Pullano, Verdiana
Ferrero, Enza
Sukarova-Angelovska, Elena
Carestiato, Silvia
Salmin, Paola
Rinninella, Antonina
Battaglia, Anthony
Bertoli, Luca
Fadda, Antonio
Palermo, Flavia
Carli, Diana
Mussa, Alessandro
Dimartino, Paola
Bruselles, Alessandro
Froukh, Tawfiq
Mandrile, Giorgia
Pasini, Barbara
De Rubeis, Silvia
Buxbaum, Joseph D.
Pippucci, Tommaso
Tartaglia, Marco
Rossato, Marzia
Delledonne, Massimo
Ferrero, Giovanni Battista
Brusco, Alfredo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10620389
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10620389
Other Identifiers
ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01324-w
