Article
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
The Journal of clinical endocrinology and metabolism - 20 Feb 2024
Besci Ozge, Foss de Freitas Maria Christina, Guidorizzi Natália Rossin, Guler Merve Celik, Gilio Donatella, Maung Jessica N, Schill Rebecca L, Hoose Keegan S, Obua Bonje N, Gomes Anabela D, Yıldırım Şimşir Ilgın, Demir Korcan, Akinci Baris, MacDougald Ormond A, Oral Elif A
Abstract excerpt
CONTEXT: Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired disorders characterized by generalized or partial loss of adipose tissue. LMNA-related lipodystrophy syndromes are classified based on the severity and distribution of adipose tissue loss. OBJECTIVE: We aimed to annotate all clinical and metabolic features of patients with lipodystrophy syndromes carrying pathogenic LMNA...
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