PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy
CONTEXT: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistanc...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126890/ https://www.ncbi.nlm.nih.gov/pubmed/30020498 http://dx.doi.org/10.1210/jc.2017-02662 |