Widening the phenotypic spectrum caused by pathogenic <i>PDX1</i> variants in individuals with neonatal diabetes
Our findings show that recessive <i>PDX1</i> variants can cause a syndromic form of NDM, highlighting the need for clinical assessment of extrapancreatic features in individuals with NDM caused by <i>PDX1</i> variants.
Authors
- Evgenia Globa (ORCID: https://orcid.org/0000-0001-7885-8195)
- Sarah Elizabeth Flanagan (ORCID: https://orcid.org/0000-0002-8670-6340)
- Jayne Houghton (ORCID: https://orcid.org/0000-0001-9474-1536)
- Matthew N. Wakeling (ORCID: https://orcid.org/0000-0002-6542-9241)
- Nicola Jeffery (ORCID: https://orcid.org/0000-0002-4101-2345)
- Andrew Tym Hattersley (ORCID: https://orcid.org/0000-0001-5620-473X)
- Elisa De Franco (ORCID: https://orcid.org/0000-0002-1437-7891)
- Omar Al Nimri
- Kashyap Patel (ORCID: https://orcid.org/0000-0002-9240-8104)
Institutions
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Ministry of Health (UA)
Publication Details
- Journal
- BMJ Open Diabetes Research & Care
- Published
- 2024-11-01
- DOI
- https://doi.org/10.1136/bmjdrc-2024-004439
- Citations
- 2
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Diabetes UK
- Ain Shams University
- Erciyes Üniversitesi
- Tehran University of Medical Sciences and Health Services