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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
(2018-02-01)
Abstract:
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, ...
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis
(2018)
Abstract:
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2- like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional ...
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
(2018-02-22)
Abstract:
Mutations withinSTXBP1have been associated with a range of neuro developmental disorder simplicating the pleotropic impact of this gene. Although the frequency of de novo mutations withinSTXBP1for selective ...
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
(2018-04-26)
Abstract:
Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. ...