Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

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 ass...

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Bibliografske podrobnosti
izdano v:Front Endocrinol (Lausanne)
Main Authors: Montenegro, Renan Magalhães, Costa-Riquetto, Aline Dantas, Fernandes, Virgínia Oliveira, Montenegro, Ana Paula Dias Rangel, de Santana, Lucas Santos, Jorge, Alexander Augusto de Lima, Karbage, Lia Beatriz de Azevedo Souza, Aguiar, Lindenberg Barbosa, Carvalho, Francisco Herlânio Costa, Teles, Milena Gurgel, d'Alva, Catarina Brasil
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2018
Teme:
Endocrinology
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6110164/
https://ncbi.nlm.nih.gov/pubmed/30177912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00458
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