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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Bibliographische Detailangaben
Veröffentlicht in:Front Endocrinol (Lausanne)
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018
Schlagworte:
Endocrinology
Online Zugang: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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