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Homozygous and heterozygous nuclear lamin A p.R582C mutation: different lipodys...
Montenegro Jr., Renan Magalhães; Costa-Riquetto, Aline Dantas; Fernandes, Virgínia Oliveira; Montenegro, Ana Paula Dias Rangel; Santana, Lucas Santos deBackground: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been associated with heterozygous mutations in this gene, demonstrating the noticeable phenotypic heterogeneity of this di...
Data: 2018
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Origem: Oasisbr