A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Li LinMengting LiJingsi LuoPin LiShasha ZhouYu YangKa ChenYing WengXiuying GeMaimaiti MireguliHaiyan WeiHaihua YangGuimei LiYan SunLanwei CuiShulin ZhangJing ChenGuozhang ZengLijun XuXiaoping LuoYiping ShenPublished in: The Journal of clinical endocrinology and metabolism (2021)
Our data suggest that ACAN mutation is 1 of the common causes of Chinese pediatric short stature. Although it has a higher detection rate among short stature patients with advanced bone age and family history, part of affected probands presented with delayed bone age in Chinese short stature population. The growth hormone treatment was moderately effective for both individuals.