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

Shujie ZhangShaoke ChenHaisong QinHaiming YuanYalei PiYu YangHui HuangGuimei LiYan SunZhihua WangHuamei MaXiaoling FuTing ZhouJian WangHuifeng ZhangYiping Shen

Published in: Orphanet journal of rare diseases (2019)

We described novel genotypes and phenotypes in a Chinese FHS patient cohort. We showed that about half of FHS patients exhibited modest to good response to GH treatment regardless of their respective GH deficiency status. We didn't find any correlation between different mutations and response to GH treatment.

Keyphrases

end stage renal disease
case report
growth hormone
peritoneal dialysis
combination therapy
smoking cessation