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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Front Endocrinol (Lausanne)
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Endocrinology
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi