ID
45034
Beschreibung
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.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000434
Stichworte
Versionen (2)
- 29.07.22 29.07.22 - Simon Heim
- 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber
Junko Oshima, MD, PhD, Department of Pathology, University of Washington, Seattle, WA, USA
Hochgeladen am
29. Juli 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000434 Next Generation Mendelian Genetics: Atypical Werner Syndrome
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Eligibility Criteria
C1711435 (UMLS CUI [1,2])
C0524459 (UMLS CUI [1,3])
C0026882 (UMLS CUI [1,4])
C1512693 (UMLS CUI [2,1])
C0043119 (UMLS CUI [2,2])