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

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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203356/
https://www.ncbi.nlm.nih.gov/pubmed/24737869
http://dx.doi.org/10.1002/emmm.201303235
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