SUN-600 Presence of LMNA p.R582H Pathogenic Variant in Homozygous State Demonstrates Gene Dosage Effect on the Severity of Fat Loss in Lipodystrophy

Background Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated with generalized fat l...

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Bibliografiset tiedot
Julkaisussa:J Endocr Soc
Päätekijät: Soyaltin, Utku Erdem, Simsir, Ilgin Yildirim, Akinci, Baris, Altay, Canan, Adiyaman, Suleyman Cem, Oral, Elif A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Adipose Tissue, Appetite, and Obesity
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207910/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1122
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