Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder typically caused by low density lipoprotein receptor (LDLR) gene mutation. Herein, we reported a FH pedigree with polygenic variants: LDLR, apolipoprotein B (APOB), and epoxide hydrolase 2 (EPHX2). PATIENT CONCERNS: A 10-ye...

Descripción completa

Detalles Bibliográficos
Autores principales: Han, Yu, Zhang, Lin, Tao, Huimin, Wu, Jiebin, Zhai, Jingfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419407/
https://www.ncbi.nlm.nih.gov/pubmed/37565868
http://dx.doi.org/10.1097/MD.0000000000034534

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419407/
https://www.ncbi.nlm.nih.gov/pubmed/37565868
http://dx.doi.org/10.1097/MD.0000000000034534

Ejemplares similares