ID
45226
Descripción
Principal Investigator: Junko Oshima, MD, PhD, Department of Pathology, University of Washington, Seattle, WA, USA MeSH: Werner Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000434 Werner syndrome (WS) is an adult-onset progeroid syndrome characterized by accelerated aging. The International Registry of Werner Syndrome in the Department of Pathology, University of Washington, collects WS cases from all over the world. Classical WS is caused by WRN mutations. Those who do not carry *WRN* are categorized as "atypical Werner syndrome." A small subset of atypical WS is caused by *LMNA* mutations. There also are many cases whose causes are still unknown. The purpose of this study is to identify other causative gene(s) of atypical WS.
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Versiones (2)
- 29/7/22 29/7/22 - Simon Heim
- 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor
Junko Oshima, MD, PhD, Department of Pathology, University of Washington, Seattle, WA, USA
Subido en
12 de octubre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000434 Next Generation Mendelian Genetics: Atypical Werner Syndrome
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