P513: Unmasking Turner syndrome in a patient with long QT syndrome: A case report and review of clinical implications
analysis confirmed that this variant results in abnormal splicing event, which supports its pathogenicity in causing hepatic adenomatosis.
Authors
- Andrew D. Blaufox
- Bani Azari (ORCID: https://orcid.org/0000-0003-3932-8030)
- Dorota Gruber (ORCID: https://orcid.org/0000-0001-5806-0127)
Institutions
- Donald & Barbara Zucker School of Medicine at Hofstra/Northwell (US)
- Cohen Children's Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103380
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00