Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1716
Título: Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology
Autor: Correia, F
Café, C
Almeida, J
Mouga, S
Oliveira, G
Palavras-chave: Perturbação Autística
Perturbações Globais do Desenvolvimento da Criança
Data: 2014
Editora: Springer
Citação: J Autism Dev Disord. 2014 [Epub ahead of print]
Resumo: Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.
Peer review: yes
URI: http://hdl.handle.net/10400.4/1716
Aparece nas colecções:CDC - Artigos

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