Search Results - "da Silva, Monique Alvares"

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features by Soares, Reivla Marques Vasconcelos, da Silva, Monique Alvares, Campos, Julliane Tamara Araújo de Melo, Lima, Josivan Gomes

“…The gene encodes a member of a nuclear receptor superfamily known as peroxisome proliferator-activated gamma (PPARγ). PPARγ plays an essential role in…”
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Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil by da Silva, Monique Alvares, Soares, Reivla Marques Vasconcelos, de Oliveira Filho, Antônio Fernandes, Campos, Leonardo René Santos, de Lima, Josivan Gomes, de Melo Campos, Julliane Tamara Araújo

“…Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty…”
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