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A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 del...

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Detalles Bibliográficos
Autores principales: Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Baena, Neus, San, Joan, Ruiz, Anna, Coll, Maria Dolors, Novell, Ramon, Guitart, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303221/
https://www.ncbi.nlm.nih.gov/pubmed/25614873
http://dx.doi.org/10.1002/mgg3.105