Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a...

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Detalles Bibliográficos
Autores principales: Cortés, Víctor A., Smalley, Susan V., Goldenberg, Denisse, Lagos, Carlos F., Hodgson, María I., Santos, José L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909042/
https://www.ncbi.nlm.nih.gov/pubmed/24498038
http://dx.doi.org/10.1371/journal.pone.0087173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909042/
https://www.ncbi.nlm.nih.gov/pubmed/24498038
http://dx.doi.org/10.1371/journal.pone.0087173

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