<scp><i>PTBP3</i></scp> Associated With <scp>9q32</scp> Locus Is a Candidate Gene for Nager Syndrome
We propose that dysregulation of PTBP3 expression may cause Nager syndrome in a subset of patients who do not have a mutation in SF3B4.
Authors
- Jean‐Pierre Saint‐Jeannet (ORCID: https://orcid.org/0000-0003-3259-2103)
- Arun Devotta
- Casey Griffin (ORCID: https://orcid.org/0000-0002-8754-0370)
- Chang‐Soo Hong
- Jose A. Gonzalez
Institutions
- New York University (US)
- Daegu University (KR)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/bdr2.2518
- Citations
- 1
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Institutes of Health