Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation

Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose toleran...

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Detalles Bibliográficos
Autores principales: Fountas, Athanasios, Giotaki, Zoe, Dounousi, Evangelia, Liapis, George, Bargiota, Alexandra, Tsatsoulis, Agathocles, Tigas, Stelios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467650/
https://www.ncbi.nlm.nih.gov/pubmed/28620495
http://dx.doi.org/10.1530/EDM-17-0049

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