Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family
The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can...
Main Authors: | Pop-Jordanova N, Zorcec T, Sukarova-Angelovska E |
---|---|
Format: | Article |
Language: | English |
Published: |
Sciendo
2021-07-01
|
Series: | Balkan Journal of Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.2478/bjmg-2021-0010 |
Similar Items
-
Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
by: Pook, M, et al.
Published: (1993) -
Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series
by: Hiroki Kimura, et al.
Published: (2023-06-01) -
Neuropathology of 16p13.11 deletion in epilepsy.
by: Joan Y W Liu, et al.
Published: (2012-01-01) -
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature
by: Roberto Palumbi, et al.
Published: (2024-08-01) -
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches
by: Paola Granata, et al.
Published: (2022-03-01)