Cargando…
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlati...
Autores principales: | Miroševič, Špela, Khandelwal, Shivang, Sušjan, Petra, Žakelj, Nina, Gosar, David, Forstnerič, Vida, Lainšček, Duško, Jerala, Roman, Osredkar, Damjan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604177/ https://www.ncbi.nlm.nih.gov/pubmed/36293418 http://dx.doi.org/10.3390/ijms232012564 |
Ejemplares similares
-
Coiled-coil heterodimer-based recruitment of an exonuclease to CRISPR/Cas for enhanced gene editing
por: Lainšček, Duško, et al.
Publicado: (2022) -
CRISPRa-mediated FOXP3 gene upregulation in mammalian cells
por: Forstnerič, Vida, et al.
Publicado: (2019) -
NLRP3 lacking the leucine-rich repeat domain can be fully activated via the canonical inflammasome pathway
por: Hafner-Bratkovič, Iva, et al.
Publicado: (2018) -
Engineered combinatorial cell device for wound healing and bone regeneration
por: Kadunc Polajnar, Lucija, et al.
Publicado: (2023) -
Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
por: Žakelj, Nina, et al.
Publicado: (2021)