A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

被引：0
|
作者：
Wu, Di [1 ]
Hu, Xuyun [2 ,3 ]
Li, Xiaoqiao [1 ]
Wei, Liya [1 ]
Su, Chang [1 ]
Chen, Jiajia [1 ]
Qin, Miao [1 ]
Gong, Chunxiu [1 ]
Shen, Yiping [2 ,3 ,4 ]
机构：
[1] Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China
[2] Maternal & Child Hlth Hosp Guanxi Zhuang Autonomo, Genet & Metab Ctr Lab, Nanning, Guangxi, Peoples R China
[3] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai, Peoples R China
[4] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P3-P229
引用
收藏
页码：459 / 459
页数：1
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