Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developm...

Full description

Bibliographic Details
Main Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genetics
Subjects:
Cohen syndrome
Hyperlinear palm
VPS13B gene
Mutation
Chinese
Online Access:http://link.springer.com/article/10.1186/s12881-019-0920-x

Internet

http://link.springer.com/article/10.1186/s12881-019-0920-x

Similar Items