Article
[Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis].
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia - 1 Feb 2011
Leão Lenora Maria Camarate Silveira Martins, Alencar Renata Carvalho de, Rodrigues Gisele da Cunha, Bouzas Izabel, Gallo Paulo, Rossini Ana
Abstract excerpt
Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia...
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