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 |
---|---|
2022 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
Am J Med Genet A. 2023 Jan;191(1):173-182. doi: 10.1002/ajmg.a.63010. Epub 2022 Oct 21.
Am J Med Genet A. 2023.
PMID: 36269149
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Fu X, Chen S, Huang X, Lu Q, Cui Y, Lin W, Yang Q.
Fu X, et al.
Front Endocrinol (Lausanne). 2024 Mar 13;15:1345067. doi: 10.3389/fendo.2024.1345067. eCollection 2024.
Front Endocrinol (Lausanne). 2024.
PMID: 38544690
Free PMC article.
Review.
Item in Clipboard
Cite
Cite