Article
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
European journal of dermatology : EJD - 1 Oct 2017
Bardawil Tara, Rebeiz Abdallah, Chaabouni Myriam, El Halabi Jessica, Kambris Zakaria, Abbas Ossama, Abou Hassan Ossama, Hamie Lamiaa, Bitar Fadi, Ghani Kibbi Abdul, Nemer Georges, Kurban Mazen
Abstract excerpt
Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.