Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review
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.
Uloženo v:
Hlavní autoři: | Özge Besci, Maria Cristina Foss‐Freitas, Natália Rossin Guidorizzi, Merve Çelik Güler, Donatella Gilio, Jessica N. Maung, Rebecca L. Schill, Keegan S. Hoose, Bonje Obua, ANABELA DILL GOMES, İlgın Yıldırım Şimşir, Korcan Demir, Barış Akıncı, Ormond A. MacDougald, Elif A Oral |
---|---|
Médium: | Revisão |
Jazyk: | angličtina |
Vydáno: |
2023
|
On-line přístup: | https://doi.org/10.1210/clinem/dgad606 https://academic.oup.com/jcem/article-pdf/109/3/e1204/56680854/dgad606.pdf |
Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
Podobné jednotky
-
Body Composition And Bone Mineral Differences According to Lamin A (LMNA) Genotype in Familial Partial Lipodystrophy Type 2
Autor: de Freitas, Maria Cristina Foss, a další
Vydáno: (2021) -
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
Autor: Soyaltin, Utku Erdem, a další
Vydáno: (2020) -
SUN-600 Presence of LMNA p.R582H Pathogenic Variant in Homozygous State Demonstrates Gene Dosage Effect on the Severity of Fat Loss in Lipodystrophy
Autor: Soyaltin, Utku Erdem, a další
Vydáno: (2020) -
SAT-622 Heterogeneity of Familial Partial Lipodystrophy Type 2 from a Genotype-Phenotype Perspective
Autor: de Freitas, Maria Cristina Foss, a další
Vydáno: (2020) -
Partial Lipodystrophy and LMNA p.R545H Variant
Autor: Magno, Silvia, a další
Vydáno: (2021)