AUTS2 Syndrome: Molecular Mechanisms and Model Systems
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.858582
Abstract: AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the AUTS2 gene. Human AUTS2 protein has two major… read more here.
Keywords: model systems; molecular mechanisms; syndrome molecular; auts2 syndrome ... See more keywords
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12091360
Abstract: Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. While the phenotype associated with large deletions and duplications… read more here.
Keywords: hyperactivity; frequency; five new; attention deficit ... See more keywords