1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

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 de

Background: 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...

Date: 2018   |   Origin: Oasisbr
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author












Date


Document Type


Access rights


Resource


Subject