SUN-135 Dual Energy X-Ray Absorptiometry (DEXA) as a Diagnostic Tool for Familial Partial Lipodystrophy, Dunnigan Variety (FPLD2)

FPLD2 is a rare autosomal dominant disorder characterized by loss of subcutaneous (sc) fat from the extremities but increased fat deposition in the face, neck and abdomen. Most FPLD2 patients (~75%) have “typical” heterozygous missense LMNA mutations affecting the arginine 482 residue and have sever...

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Pubblicato in:J Endocr Soc
Autori principali: Vasandani, Chandna, Li, Xilong, Adams Huet, Beverly, Garg, Abhimanyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2019
Soggetti:
Diabetes Mellitus and Glucose Metabolism
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552969/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-135
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