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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 37 Issue 2
Mar.  2021
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Neonatal cerebrotendinous xanthomatosis with cholestatic jaundice as the initial manifestation: A case report

DOI: 10.3969/j.issn.1001-5256.2021.02.034
  • Received Date: 2020-07-30
  • Accepted Date: 2020-09-22
  • Published Date: 2021-02-20
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    GUO HM, LI M, JIN Y, et al. A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene[J]. J Clin Pediatr, 2017, 35(11): 841-843. (in Chinese) DOI: 10.3969/j.issn.1000-3606.2017.11.010

    郭红梅, 李玫, 金玉, 等. CYP27A1基因突变致脑黄腱瘤1例报告并文献复习[J]. 临床儿科杂志, 2017, 35(11): 841-843. DOI: 10.3969/j.issn.1000-3606.2017.11.010
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    张雪媛, 陆怡. 脑腱黄瘤病1例病例报告并文献复习[J]. 中国循证儿科杂志, 2016, 11(3): 210-214. DOI: 10.3969/j.issn.1673-5501.2016.03.010
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    TAO QQ, ZHANG Y, LIN HX, et al. Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis[J]. Orphanet J Rare Dis, 2019, 14(1): 282. DOI: 10.1186/s13023-019-1252-9
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