SAT-622 Heterogeneity of Familial Partial Lipodystrophy Type 2 from a Genotype-Phenotype Perspective

Phenotypic heterogeneity is a well-known feature of Familial Partial Lipodystrophy Type 2 (FPLD2) which is caused by pathogenic variants in the LMNA gene. Clinical diagnosis can be challenging in some cases. Likewise, trained physicians can report differences in body composition and clinical manifes...

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Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: de Freitas, Maria Cristina Foss, Eldin, Abdelwahab Jalal, Akinci, Baris, Corsa, Callie, MacDougald, Ormond A, Oral, Elif A
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
Diabetes Mellitus and Glucose Metabolism
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207779/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1097
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