An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

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...

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Detalhes bibliográficos
Publicado no:J Cell Mol Med
Main Authors: 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, Maestrini, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7933976/
https://ncbi.nlm.nih.gov/pubmed/33476483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.16161
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