Hamed Ghoshouni Roham Sarmadian Rana Irilouzadian Habibe Nejad Biglari Abolfazl Gilani
10.1177/23247096231168109
J Investig Med High Impact Case Rep
2023 Jan-Dec;11:23247096231168109.
cdg type iih cog8 gene ctx disorder cyp27a1 gene
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/37083278/
Xanthomatosis, Cerebrotendinous / complications Xanthomatosis, Cerebrotendinous / diagnosis Xanthomatosis, Cerebrotendinous / genetics
Xanthomatosis, Cerebrotendinous / complications Xanthomatosis, Cerebrotendinous / diagnosis Xanthomatosis, Cerebrotendinous / genetics Case Reports Cholestanetriol 26-Monooxygenase / genetics Cholestanol / metabolism Cholesterol Humans Mutation Cholestanetriol 26-Monooxygenase Cholestanol Cholesterol
PMC10126670
37083278
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
2023