Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Abstract Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although the symptoms begin commonly in infancy, CTX diagnosis is often delay...

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Bibliographic Details
Main Authors: Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cerebrotendinous Xanthomatosis
Novel mutation
Achilles
Tendon xanthomas
Online Access:https://doi.org/10.1186/s13023-024-03082-4

Internet

https://doi.org/10.1186/s13023-024-03082-4

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