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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933976/
https://www.ncbi.nlm.nih.gov/pubmed/33476483
http://dx.doi.org/10.1111/jcmm.16161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933976/
https://www.ncbi.nlm.nih.gov/pubmed/33476483
http://dx.doi.org/10.1111/jcmm.16161

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