POLA2 ‐Related Coats Plus Syndrome: Case Presentation and Description of an Emerging Disorder
Year: 2026
Type: article
Study design: Case Report
Abstract: We report an adult male with bilateral retinal vascular disease, hypocellular bone marrow failure, severe gastrointestinal bleeding, and premature hair graying, with telomere lengths near the 10th percentile. Exome sequencing resulted in the diagnosis of POLA2-related Coats plus syndrome, making him the sixth reported case.
Source: Clinical Genetics
DOI: 10.1111/cge.70277
Institutions: University of Washington, Fred Hutch Cancer Center
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,980
OpenAlex ID: W7225085134