Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report

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Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report

ABSTRACT Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dy...

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Bibliographic Details
Main Authors:	Felipe Augusto Azevedo Leão, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães
Format:	Article
Language:	English
Published:	Brazilian Society of Endocrinology and Metabolism 2025-06-01
Series:	Archives of Endocrinology and Metabolism
Subjects:	Hypercholesterolemia Lipid metabolism disorders Genetics
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000300900&lng=en&tlng=en
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