Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

CONTEXT: Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metabolism, have been implicated in familial partial lipodystrophy type 4 (FPLD4), a rare entity with only six families reported worldwide. The pathogenicity of other P...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:J Clin Endocrinol Metab
Main Authors: Jéru, Isabelle, Vantyghem, Marie-Christine, Bismuth, Elise, Cervera, Pascale, Barraud, Sara, Auclair, Martine, Vatier, Camille, Lascols, Olivier, Savage, David B, Vigouroux, Corinne
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916795/
https://ncbi.nlm.nih.gov/pubmed/31504636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2019-00849
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