Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities"
Page 1
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564.
Int J Mol Sci. 2022.
PMID: 36293418
Free PMC article.
Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. ...The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, …
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B.
Jacobs EZ, et al.
Clin Genet. 2021 Feb;99(2):259-268. doi: 10.1111/cge.13874. Epub 2020 Nov 23.
Clin Genet. 2021.
PMID: 33131045
Six patients were diagnosed following whole exome sequencing and four individuals with exome-based targeted panel analysis. Most of them present with developmental delay, manifesting in speech and motor delay. Other frequent findings are hypotonia, cog …
Six patients were diagnosed following whole exome sequencing and four individuals with exome-based targeted panel analysis. Most of them pre …
Item in Clipboard
Cite
Cite