Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2

Xuehan Zhuang; Yongping Li; Hongzhi Cao; Ting Wang; Jianghao Chen; Jiayun Liu; Liya Lin; Rui Ye; Xinyang Li; Shuang Liu; Weiyang Li; Yonggang Lv; Juliang Zhang; Chenyang He; Xun Xu; Zhen Wang; Chen Huang; Xiao Liu; Ling Wang

doi:10.1097/MD.0000000000004251

Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2

Xuehan Zhuang, Yongping Li, Hongzhi Cao, Ting Wang, Jianghao Chen, Jiayun Liu, Liya Lin, Rui Ye, Xinyang Li, Shuang Liu, Weiyang Li, Yonggang Lv, Juliang Zhang, Chenyang He, Xun Xu, Zhen Wang, Chen Huang, Xiao Liu, Ling Wang

Department of Biology

2 Citations (Scopus)

81 Downloads (Pure)

Original language	English
Article number	29
Journal	Medicine (Baltimore)
Volume	95
Issue number	29
Number of pages	6
ISSN	0025-7974
DOIs	https://doi.org/10.1097/MD.0000000000004251
Publication status	Published - 26 Jul 2016

Keywords

CHEK2
de novo mutation
Li-Fraumeni syndrome-like
whole exome sequencing

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10.1097/MD.0000000000004251Licence: CC BY

Zhuang_2016_Case_report_of_a_Li-FraumeniFinal published version, 571 KBLicence: CC BY

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title = "Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2",

keywords = "CHEK2, de novo mutation, Li-Fraumeni syndrome-like, whole exome sequencing",

author = "Xuehan Zhuang and Yongping Li and Hongzhi Cao and Ting Wang and Jianghao Chen and Jiayun Liu and Liya Lin and Rui Ye and Xinyang Li and Shuang Liu and Weiyang Li and Yonggang Lv and Juliang Zhang and Chenyang He and Xun Xu and Zhen Wang and Chen Huang and Xiao Liu and Ling Wang",

year = "2016",

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day = "26",

doi = "10.1097/MD.0000000000004251",

language = "English",

volume = "95",

journal = "Medicine (Baltimore)",

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TY - JOUR

T1 - Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2

AU - Zhuang, Xuehan

AU - Li, Yongping

AU - Cao, Hongzhi

AU - Wang, Ting

AU - Chen, Jianghao

AU - Liu, Jiayun

AU - Lin, Liya

AU - Ye, Rui

AU - Li, Xinyang

AU - Liu, Shuang

AU - Li, Weiyang

AU - Lv, Yonggang

AU - Zhang, Juliang

AU - He, Chenyang

AU - Xu, Xun

AU - Wang, Zhen

AU - Huang, Chen

AU - Liu, Xiao

AU - Wang, Ling

PY - 2016/7/26

Y1 - 2016/7/26

KW - CHEK2

KW - de novo mutation

KW - Li-Fraumeni syndrome-like

KW - whole exome sequencing

U2 - 10.1097/MD.0000000000004251

DO - 10.1097/MD.0000000000004251

M3 - Journal article

C2 - 27442652

SN - 0025-7974

VL - 95

JO - Medicine (Baltimore)

JF - Medicine (Baltimore)

IS - 29

M1 - 29

ER -

Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2

Keywords

UN SDGs

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