17
Feb
16p11.2 deletion or duplication diagnosis
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16p11.2 deletion or duplication diagnosis Numerous copy number variants have been established to influence the likelihood of neurodevelopmental, mental health, and cognitive disabilities. The examples are 16p11.2 proximal deletions and duplications where individuals experience high varied phenotypes and are at higher risk for lifelong psychiatric problems. Previous literature has shown... Read More
30
Jul
8q12.3 deletion, the YTHDF3 gene and normal brain development
The YTHDF3 gene is located at chromosome 8q12.3 deletion. The data demonstrates that this gene is necessary for normal brain development. In animal models the YTHDF3 gene is necessary for normal development of the brain. However this gene has not been shown to cause any Mendelian disease. In humans, the... Read More
02
Dec
EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder
EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder The ephrin receptor A7 (EPHA7) is one of the genes involved in the formation of dendrites during brain development. This gene is located at 6q16.1. Only one child with a deletion of this gene has been reported so... Read More
