Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CN...

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Detalles Bibliográficos
Autores principales: Falsaperla, Raffaele, Pappalardo, Xena Giada, Romano, Catia, Marino, Simona Domenica, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Pavone, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518065/
https://www.ncbi.nlm.nih.gov/pubmed/33042910
http://dx.doi.org/10.3389/fped.2020.00550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518065/
https://www.ncbi.nlm.nih.gov/pubmed/33042910
http://dx.doi.org/10.3389/fped.2020.00550

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