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CTNND2 deletion and intellectual disability
- Source :
- Gene. 565:146-149
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
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.
Details
- ISSN :
- 03781119
- Volume :
- 565
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....e14b3519b2c64b059038c2ead74870c5