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 |
---|---|
2013 | 1 |
2014 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.
Eur J Hum Genet. 2014.
PMID: 23756445
Free PMC article.
MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. ...The AP1S2 c.426+1 G>T …
MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals present …
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D, Wang M, Xu Y, Zhang J, Yang F, Yang Z.
Zhu D, et al.
Neurogenetics. 2022 Jul;23(3):179-185. doi: 10.1007/s10048-022-00691-8. Epub 2022 Apr 7.
Neurogenetics. 2022.
PMID: 35391588
Variants in AP1S2 have been reported to cause a rare neurodevelopmental disorder, Pettigrew syndrome (PGS) (OMIM: 304,340), which is characterized by walking delay, abnormal speech, mild to profound X-linked intellectual disability (XLID), and abnormal brain, and be …
Variants in AP1S2 have been reported to cause a rare neurodevelopmental disorder, Pettigrew syndrome (PGS) (OMIM: 304,340), wh …
Item in Clipboard
Cite
Cite