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Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation

Cerebrotendinous xanthomatosis (CTX), also known as CTX, is an extremely rare bile acid metabolic disorder caused by mutations in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. This genetic disease is inherited in an autosomal recessive manner, and it affects the enzyme sterol 27...

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Detalles Bibliográficos
Autores principales: Mahadevan, Nivedhan, Thiruvadi, Varshini, C, Paranthakan, A, Rekha, A, Magesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821311/
https://www.ncbi.nlm.nih.gov/pubmed/36628393
http://dx.doi.org/10.7759/cureus.33378