A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A ‐ related pathologies

Author:

Lessel Davor1ORCID,Rading Katrin1,Campbell Susan E.2,Thiele Holger3,Altmüller Janine345,Gordon Leslie B.678,Kubisch Christian1

Affiliation:

1. Institute of Human Genetics University Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Center for Gerontology and Healthcare Research Brown University Providence Rhode Island USA

3. Cologne Center for Genomics University of Cologne Cologne Germany

4. Berlin Institute of Health Charité—Universitätsmedizin Berlin, Core Facility Genomics Berlin Germany

5. The Genomics unit Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany

6. Department of Pediatrics, Division of Genetics Hasbro Children's Hospital Providence Rhode Island USA

7. Warren Alpert Medical School Brown University Providence Rhode Island USA

8. Department of Anesthesiology, Perioperative and Pain Medicine Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

Funder

Deutsche Forschungsgemeinschaft

Progeria Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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