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

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 stature pa...

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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: Zhang, Shujie, Chen, Shaoke, Qin, Haisong, Yuan, Haiming, Pi, Yalei, Yang, Yu, Huang, Hui, Li, Guimei, Sun, Yan, Wang, Zhihua, Ma, Huamei, Fu, Xiaoling, Zhou, Ting, Wang, Jian, Zhang, Huifeng, Shen, Yiping
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6570847/
https://ncbi.nlm.nih.gov/pubmed/31200758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1111-8
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