Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mu...

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Detalles Bibliográficos
Autores principales: Koyama, Shingo, Okabe, Yuma, Suzuki, Yuya, Igari, Ryosuke, Sato, Hiroyasu, Iseki, Chifumi, Tanji, Kazuyo, Suzuki, Kyoko, Ohta, Yasuyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131546/
https://www.ncbi.nlm.nih.gov/pubmed/35614401
http://dx.doi.org/10.1186/s12883-022-02711-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131546/
https://www.ncbi.nlm.nih.gov/pubmed/35614401
http://dx.doi.org/10.1186/s12883-022-02711-4

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