| dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
| dc.contributor.author | Wong, Leonie C.H. |
| dc.contributor.author | Bueno, Andrea |
| dc.contributor.author | Benito, Begoña |
| dc.contributor.author | Homfray, Tessa |
| dc.contributor.author | Till, Jan |
| dc.contributor.author | Roses-Noguer, Ferran |
| dc.date.accessioned | 2023-12-21T11:12:45Z |
| dc.date.available | 2023-12-21T11:12:45Z |
| dc.date.issued | 2023-12 |
| dc.identifier.citation | Wong LCH, Roses-Noguer F, Bueno A, Benito Villabriga B, Homfray T, Till J. Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant. HeartRhythm Case Rep. 2023 Dec;9(12):858–62. |
| dc.identifier.issn | 2214-0271 |
| dc.identifier.uri | https://hdl.handle.net/11351/10739 |
| dc.description | Calmodulina; Aturada cardíaca; Hipertròfia ventricular |
| dc.language.iso | eng |
| dc.publisher | Elsevier |
| dc.relation.ispartofseries | HeartRhythm Case Reports;9(12) |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| dc.source | Scientia |
| dc.subject | Fenotip |
| dc.subject | Aturada cardíaca |
| dc.subject | Cor - Hipertròfia |
| dc.subject.mesh | Heart Arrest |
| dc.subject.mesh | Hypertrophy, Left Ventricular |
| dc.subject.mesh | Phenotype |
| dc.title | Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant |
| dc.type | info:eu-repo/semantics/article |
| dc.identifier.doi | 10.1016/j.hrcr.2023.08.015 |
| dc.subject.decs | paro cardíaco |
| dc.subject.decs | hipertrofia ventricular izquierda |
| dc.subject.decs | fenotipo |
| dc.relation.publishversion | https://doi.org/10.1016/j.hrcr.2023.08.015 |
| dc.type.version | info:eu-repo/semantics/publishedVersion |
| dc.audience | Professionals |
| dc.contributor.organismes | Institut Català de la Salut |
| dc.contributor.authoraffiliation | [Wong LCH, Till J] Department of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom. [Roses-Noguer F] Department of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom. Servei de Cardiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart). [Bueno A] Servei de Cardiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Benito Villabriga B] Servei de Cardiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart). [Homfray T] Department of Medical Genetics, Royal Brompton Hospital, London, United Kingdom. Department of Medical Genetics, St George’s University of London, London, United Kingdom |
| dc.rights.accessrights | info:eu-repo/semantics/openAccess |