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

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.

Source: BMC Medical Genetics - November 21, 2019 Category: Genetics & Stem Cells Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong Tags: Case report Source Type: research