Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case...
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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | EN PT |
| Publicado: |
Sociedade Portuguesa de Pediatria
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/1e7ca78b4c0c49638b433fbca55718e1 |
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