Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare <i>POLD1</i> variants
Subjects with heterozygous POLD1 p.Ser605del variant had typical MDPL with more severe phenotype compared to those with missense variants with atypical MDPL.
Authors
- Simha
- Rebecca Brown (ORCID: https://orcid.org/0000-0001-5110-2750)
- Chun-Yuan Huang (ORCID: https://orcid.org/0000-0002-8256-1930)
- Fieke W. Hoff (ORCID: https://orcid.org/0000-0002-7128-1255)
- Abhimanyu Garg
- Chao Xing
Institutions
- Mayo Clinic (US)
- National Institute of Diabetes and Digestive and Kidney Diseases (US)
- Southwestern Medical Center (US)
- National Heart, Lung, and Blood Institute (US)
- Mayo Clinic in Arizona (US)
- Southwestern Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2026-02-24
- DOI
- https://doi.org/10.1210/clinem/dgag079
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00