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Keywords: Cornelia de Lange Syndrome
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Journal Articles

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Open Access
Subject Area:
Further Areas
Xueren Gao, Zhuo Huang, Yanjie Fan, Yu Sun, Huili Liu, Lili Wang, Xue-Fan Gu, Yongguo Yu
Journal: Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2018) 47 (6): 2388–2395.
https://doi.org/10.1159/000491613
Published Online: 10 July 2018
...Xueren Gao; Zhuo Huang; Yanjie Fan; Yu Sun; Huili Liu; Lili Wang; Xue-Fan Gu; Yongguo Yu Background/Aims: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple...
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Journal Articles

Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

Open Access
Subject Area:
Further Areas
Ruixue Cao, Tian Pu, Shaohai Fang, Fei Long, Jing Xie, Yuejuan Xu, Sun Chen, Kun Sun, Rang Xu
Journal: Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2015) 35 (1): 270–280.
https://doi.org/10.1159/000369694
Published Online: 09 January 2015
...Ruixue Cao; Tian Pu; Shaohai Fang; Fei Long; Jing Xie; Yuejuan Xu; Sun Chen; Kun Sun; Rang Xu Background: Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities...
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