A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome

被引：0

作者：

XU Wei-zhen ^{[1
,2
]}

CHEN Chun-yue ^{[2
,3
]}

CHEN Xiao-ling ^{[2
]}

ZHAO Yan ^{[2
]}

LIU Wen-ting ^{[2
]}

DU Zhen-fang ^{[2
]}

ZHANG Xian-ning ^{[2
]}

机构：

[1] Institute of Cancer,Zhejiang Cancer Hospital

[2] Department of Cell Biology and Medical Genetics,National Education Base for Basic Medical Sciences,Institute of Cell Biology,Zhejiang University School of Medicine

[3] Department of Reproductive Medicine,Hangzhou Red Cross Hospital

来源：

中华医学杂志(英文版) | 2013年 / 126卷 / 01期

关键词：

D O I：

暂无

中图分类号：

R596.1 [染色体病];

学科分类号：

1002 ; 100201 ;

摘要：

Cornelia de Lange syndrome(CdLS;OMIM:122470)is characterized by distinctive facial features,growth retardation,hirsutism,and upper limb reduction defects.Craniofacial features manifest as synophiys,arched eyebrows,long thick eyelashes,a small upturned nose,small widely-spaced teeth,and microcephaly.The

引用

页码：191 / 192

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[1] A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome
Xu Wei-zhen
Chen Chun-yue
Chen Xiao-ling
Zhao Yan
Liu Wen-ting
Du Zhen-fang
Zhang Xian-ning
[J]. CHINESE MEDICAL JOURNAL, 2013, 126 (01) : 191 - 192
[2] Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report
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