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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: 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
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Research
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars