Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant.
作者信息
Barile Anna Maria, Randazzo Cristiana, Di Gaudio Francesca, Buscemi Carola, Brunacci Giuseppina, Buscemi Silvio
机构信息
Dipartimento Di Promozione Della Salute, Materno-Infantile, Medicina Interna E Specialistica Di Eccellenza (PROMISE), University of Palermo, Piazza Delle Cliniche, 2-90127, Palermo, Italy.
Unit of Clinical Nutrition, Obesity and Metabolic Diseases, AOU Policlinico "P. Giaccone", Palermo, Italy.
出版信息
Acta Diabetol. 2025 Feb;62(2):285-288. doi: 10.1007/s00592-024-02396-w. Epub 2024 Oct 29.
Abstract
摘要
Zotero 插件