Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3

Rutkowska, L; Salachna, D; Lewandowski, K; Lewinski, A; Gach, A

Rutkowska, L; Gach, A (通讯作者),Polish Mothers Mem Hosp Res Inst, Dept Genet, PL-93338 Lodz, Poland.;Lewandowski, K; Lewinski, A (通讯作者),Med Univ Lodz, Dept Endocrinol & Metab Dis, PL-90419 Lodz, Poland.;Lewandowski, K; Lewinski, A (通讯作者),Polish Mothers Mem Hosp Res Inst, Dept Endocrinol & Metab Dis, PL-93338 Lodz, Poland.

DIAGNOSTICS, 2022; 12 (5):

Abstract

Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue. Its estimated prevalence is as......

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