Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes

Severe hypertriglyceridemia (HTG) (>885 mg/dL) can be caused by familial partial lipodystrophy type 3 (FPLD3), an autosomal dominant disorder caused by loss of function of the peroxisome proliferator-activated receptor gamma (PPARG), characterized by abnormal distribution of fat and metabolic der...

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Detalles Bibliográficos
Autores principales: Gutierrez Alvarez, Ana, Yachelevich, Naomi, Kohn, Brenda, Brar, Preneet Cheema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749027/
https://www.ncbi.nlm.nih.gov/pubmed/34991302
http://dx.doi.org/10.6065/apem.2142056.028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749027/
https://www.ncbi.nlm.nih.gov/pubmed/34991302
http://dx.doi.org/10.6065/apem.2142056.028

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