An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the...
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
About this item
Full title
Author / Creator
Cameli, Cinzia , Viggiano, Marta , Rochat, Magali J. , Maresca, Alessandra , Caporali, Leonardo , Fiorini, Claudio , Palombo, Flavia , Magini, Pamela , Duardo, Renée C. , Ceroni, Fabiola , Scaduto, Maria C. , Posar, Annio , Seri, Marco , Carelli, Valerio , Visconti, Paola , Bacchelli, Elena and Maestrini, Elena
Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
England: John Wiley & Sons, Inc
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Scope and Contents
Contents
Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%‐30%) presenting a rare large‐effect variant. However, clinical interpretation in these cases is often complicated by incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRX...
Alternative Titles
Full title
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7933976
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7933976
Other Identifiers
ISSN
1582-1838
E-ISSN
1582-4934
DOI
10.1111/jcmm.16161
