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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207779/ http://dx.doi.org/10.1210/jendso/bvaa046.1097 |