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Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3

Background: Molecular basis of diet responsive hypercholesterolemia remains unclear. We report diet-responsive severe hypercholesterolemia in a young female with cardiofaciocutaneous syndrome type 3 (CFC3) due to a heterozygous pathogenic MAP2K1 variant, suggesting a role of common MAPK variants in...

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Detalles Bibliográficos
Autores principales:	Patni, Nivedita, Garg, Abhimanyu, Xing, Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Cardiovascular Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266036/ http://dx.doi.org/10.1210/jendso/bvab048.628

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