Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g...

Source: Orphanet Journal of Rare Diseases - June 14, 2019 Category: Internal Medicine Authors: Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang and Yiping Shen Tags: Research Source Type: research