A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
一名患有博尔杰森-福斯曼-莱曼综合征扩展表型的女性患者的PHF6基因存在一种新的无义突变
期刊:Journal of Clinical Research in Pediatric Endocrinology
影响因子:1.5
doi:10.4274/jcrpe.galenos.2019.2018.0220
Zhang, Xia; Fan, Yanjie; Liu, Xiaomin; Zhu, Ming-Ang; Sun, Yu; Yan, Hui; He, Yunjuan; Ye, Xiantao; Gu, Xuefan; Yu, Yongguo