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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2014
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Research Articles
Accesso online: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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