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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570847/
https://www.ncbi.nlm.nih.gov/pubmed/31200758
http://dx.doi.org/10.1186/s13023-019-1111-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570847/
https://www.ncbi.nlm.nih.gov/pubmed/31200758
http://dx.doi.org/10.1186/s13023-019-1111-8

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