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Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.

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Bibliographic Details
Title: Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.
Authors: Keskinen S; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 10, 20521 Turku, Finland. Electronic address: stalan@utu.fi., Niemelä J; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: jussi.niemela@varha.fi., Koillinen H; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. Electronic address: hannele.koillinen@varha.fi., Boldt T; Department of Pediatric Cardiology, New Children's Hospital, Stenbäckinkatu 9, 00290 Helsinki, Finland. Electronic address: talvikki.boldt@hus.fi., Arola A; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: anita.arola@varha.fi.
Source: Cardiovascular revascularization medicine : including molecular interventions [Cardiovasc Revasc Med] 2026 Feb; Vol. 83, pp. 73-78. Date of Electronic Publication: 2025 Apr 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101238551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0938 (Electronic) Linking ISSN: 18780938 NLM ISO Abbreviation: Cardiovasc Revasc Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1878-0938
DOI:10.1016/j.carrev.2025.04.027