SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome

Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift variants of PLIN1 gene. This gene encodes perilipin 1, a protein playing a key role in the structure of the adipocyte lipid droplet and in the regulation of lipolysis. Only 6 inde...

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Dettagli Bibliografici
Pubblicato in:J Endocr Soc
Autori principali: Vantyghem, Marie-Christine, Jeru, Isabelle, Bismuth, Elise, Meggison, Hilary, Auclair, Martine, Vatier, Camille, Delemer, Brigitte, Lascols, Olivier, Savage, David, Vigouroux, Corinne
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2019
Soggetti:
Genetics and Development (including Gene Regulation)
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553183/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-037
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