Article
A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.
Endocrine research - 1 Nov 2018
Yurekli Banu, Ozdemir Kutbay Nilufer, Altay Canan, Unlu Sadiye Mehtat, Sen Sait, Onay Huseyin, Atik Tahir, Akinci Baris
Abstract excerpt
PURPOSE: To describe an interesting subtype of familial partial lipodystrophy (FPLD). METHODS: The phenotype of this distinctive FPLD subtype was studied in three Turkish female siblings. RESULTS: Mutation testing was negative for the genes associated with lipodystrophy syndromes. In MRI studies, fat loss was prominent in the posterior aspects of the proximal lower limbs, whilst some fat was preserved in the...
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