Werner综合征一例及其精准诊断

doi:10.35541/cjd.20190410

Chinese Journal of Dermatology ›› 2020, Vol. 53 ›› Issue (9): 738-740.doi: 10.35541/cjd.20190410

• Case Reports • Previous Articles Next Articles

A case of Werner syndrome and its precise diagnosis

Xiaerbati · Habulieti¹, Wang Rongrong¹, Ma Donglai², Zhang Xue¹

¹McKusick⁃Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China; ²Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China

Received:2019-03-22 Revised:2019-09-08 Online:2020-09-15 Published:2020-08-31
Contact: Zhang Xue; Ma Donglai E-mail:xuezhang@pumc.edu.cn; mdonglai@pumch.cams.cn
Supported by:
National Key Research and Development Program of China （2016YFC0905100）; Natural Science Foundation of Beijing （7172167）; CAMS Innovation Fund for Medical Sciences （2016-I2M-1-002）

Abstract

Xiaerbati · Habulieti, Wang Rongrong, Ma Donglai, Zhang Xue. A case of Werner syndrome and its precise diagnosis[J]. Chinese Journal of Dermatology, 2020, 53(9): 738-740.doi:10.35541/cjd.20190410

References ［11］

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［4］	Suzuki T, Shiratori M, Furuichi Y, et al. Diverged nuclear localization of Werner helicase in human and mouse cells［J］. Oncogene, 2001,20（20）:2551⁃2558. doi: 10.1038/sj.onc.1204344.
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［8］	von Kobbe C, Bohr VA. A nucleolar targeting sequence in the Werner syndrome protein resides within residues 949⁃1092［J］. J Cell Sci, 2002,115（Pt 20）:3901⁃3907. doi: 10.1242/jcs.00076.
［9］	Friedrich K, Lee L, Leistritz DF, et al. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic⁃specific alterations［J］. Hum Genet, 2010,128（1）:103⁃111. doi: 10.1007/s00439⁃010⁃0832⁃5.
［10］	Bachrati CZ, Hickson ID. RecQ helicases: suppressors of tumorigenesis and premature aging［J］. Biochem J, 2003,374（Pt 3）:577⁃606. doi: 10.1042/BJ20030491.
［11］	Matsumoto T, Shimamoto A, Goto M, et al. Impaired nuclear localization of defective DNA helicases in Werner′s syndrome［J］. Nat Genet, 1997,16（4）:335⁃336. doi: 10.1038/ng0897⁃335.

A case of Werner syndrome and its precise diagnosis

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