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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Falsaperla, Raffaele, Pappalardo, Xena Giada, Romano, Catia, Marino, Simona Domenica, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Pavone, Piero
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7518065/
https://ncbi.nlm.nih.gov/pubmed/33042910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00550
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