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Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving .

作者信息

Roy Ajitesh, Roy Sounak Kumar, Das Soumyadip

机构信息

Department of Endocrinology, Vivekananda Institute of Medical Sciences, Kolkata, West Bengal 700026, India.

Department of General Medicine, Vivekananda Institute of Medical Sciences, Kolkata, West Bengal 700026, India.

出版信息

JCEM Case Rep. 2025 Jul 16;3(8):luaf153. doi: 10.1210/jcemcr/luaf153. eCollection 2025 Aug.

DOI:10.1210/jcemcr/luaf153
PMID:40671872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12264422/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24c5/12264422/cc0bce43d6d4/luaf153f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24c5/12264422/cc0bce43d6d4/luaf153f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24c5/12264422/cc0bce43d6d4/luaf153f1.jpg

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本文引用的文献

1
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.脑腱黄瘤病患者的临床和影像学特征——来自印度的视频病例系列。
Tremor Other Hyperkinet Mov (N Y). 2024 Mar 6;14:10. doi: 10.5334/tohm.851. eCollection 2024.
2
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.脑腱黄瘤病：印度东部和苏里南人群中CYP27A1基因（c.526delG）存在奠基者突变的可能性。
Mol Genet Metab Rep. 2015 Mar 23;3:33-5. doi: 10.1016/j.ymgmr.2015.03.002. eCollection 2015 Jun.