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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110164/
https://www.ncbi.nlm.nih.gov/pubmed/30177912
http://dx.doi.org/10.3389/fendo.2018.00458

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