SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy

Background: Acquired generalized lipodystrophy (AGL) is characterized by near-total fat loss that develops after birth. Although the molecular pathogenesis of AGL is unclear, there is a link to autoimmunity and inflammation. Notably, the panniculitis associated variety of AGL may present with subcut...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Endocr Soc
Main Authors: Brandao, Marjorie Azevedo Jales, de Freitas, Maria Cristina Foss, Akinci, Baris, Hannibal, Mark, Walkovich, Kelly, Oral, Elif A
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2020
נושאים:
Cardiovascular Endocrinology
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207647/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1119
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