CTNND2 deletion and intellectual disability.
Gene
; 565(1): 146-9, 2015 Jul 01.
Article
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Catenins
/
Intellectual Disability
Limits:
Humans
/
Male
Language:
En
Journal:
Gene
Year:
2015
Document type:
Article