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Article

Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up.

Saudi medical journal - 1 Jul 2007

Price Evans David A, Salah Kawther A, Mobrad Mashael A, Mitchell William D, Olin Maria, Eggertsen Gosta

Abstract excerpt

A Saudi Arabian family is described in which there were 2 siblings with typical features of cerebral xanthomatosis CTX including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances, and atherosclerosis. The 2 patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene CYP27A1, OMIM 606530 located in the splice site of intron 6, where G was exchanged...

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PMID: 17603722

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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