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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552969/ http://dx.doi.org/10.1210/js.2019-SUN-135 |