Deciphering the Clinical Presentations in LMNA-Related Lipodystrophy: Report of 115 cases and a Systematic Review.
Özge BesciMaria Cristina Foss de FreitasNatalia Rossin GuidorizziMerve Celik GulerDonatella GilioJessica N MaungRebecca L SchillKeegan S HooseBonje N ObuaAnabela D GomesIlgın Yildirim ŞimşirKorcan DemirBarış AkıncıOrmond A MacDougaldElif Arioglu OralPublished in: The Journal of clinical endocrinology and metabolism (2023)
This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.