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SUN-556 Cardiac Phenotype in Familial Partial Lipodystrophy
Background Pathogenic variants in Lamin A/C (LMNA) gene are the most common monogenic etiology in Familial Partial Lipodystrophy (FPLD) causing FPLD2. LMNA pathogenic variants have been previously associated with cardiomyopathy, familial arrhythmias or conduction system abnormalities independent of...
Autores principales: | Eldin, Abdelwahab Jalal, Akinci, Baris, da Rocha, Andre Monteiro, Meral, Rasimcan, Simsir, Ilgin Yildirim, Adiyaman, Suleyman Cem, Ozpelit, Ebru, Bhave, Nicole, Gen, Ramazan, Yurekli, Banu Sarer, Kutbay, Nilufer Ozdemir, Siklar, Zeynep, Neidert, Adam, Swaidan, Mario, Rus, Diana, Hench, Rita, Jalife, Jose, Oral, Hakan, Oral, Elif A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207313/ http://dx.doi.org/10.1210/jendso/bvaa046.1116 |
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