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

页码：459 / 459

页数：1