Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzyme sterol 27-hydroxylase. Case presentation Herein we describe two af...

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Bibliographic Details
Main Authors: Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo, Bita Geramizadeh
Format: Article
Language:English
Published: SpringerOpen 2023-05-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Cerebrotendinous xanthomatosis
CYP27A1
Cholestanol
Chenodeoxycholic acid novel mutation
Whole exome sequencing
Online Access:https://doi.org/10.1186/s43042-023-00413-1

Internet

https://doi.org/10.1186/s43042-023-00413-1

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