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

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

Abstract Background 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 growth hormone treatment existed. Methods We ascertained 12 short sta...

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Bibliographic Details
Main 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, Yiping Shen
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Floating-Harbor syndrome
SRCAP
Chinese
Short stature
Growth hormone deficiency
Online Access:http://link.springer.com/article/10.1186/s13023-019-1111-8

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http://link.springer.com/article/10.1186/s13023-019-1111-8

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