CTNND2 deletion and intellectual disability.
Gene
; 565(1): 146-9, 2015 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-25839933
ABSTRACT
Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.
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Base de dados:
MEDLINE
Assunto principal:
Cateninas
/
Deficiência Intelectual
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article