Загрузка...

SUN-LB012 Familial Partial Lipodystrophy Type 3: New Variant to the PPARG Gene Mutation

Objective: Familial partial lipodystrophy (FPLD) syndromes are rare and characterized by variable loss of adipose tissue in some areas of the body with excess deposition of fat in other areas, and complex metabolic derangements. We present a patient who had a new pathogenic variant identified in the...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :J Endocr Soc
Главные авторы: Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul
Формат: Artigo
Язык:Inglês
Опубликовано: Endocrine Society 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552779/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB012
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!