Article
Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.
Journal of applied genetics - 1 Nov 2017
Tumiene Birute, Čiuladaitė Ž, Preikšaitienė E, Mameniškienė R, Utkus A, Kučinskas V
Abstract excerpt
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Carrier Proteins
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 10
- Co-Repressor Proteins
- DNA-Binding Proteins
