Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings with mild ID and epilepsy in the CADPS2 gene, encoding for a...

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Bibliografski detalji
Glavni autori: Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Format: Artigo
Jezik:Inglês
Izdano: Blackwell Publishing Ltd 2014
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203356/
https://ncbi.nlm.nih.gov/pubmed/24737869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201303235
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