A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea

被引：0
|
作者：
Jeon, Jaesung [1 ]
Kim, Minji [1 ]
Yoo, Sukdong [1 ]
Kim, Yoomi [2 ]
Cheon, Chong Kun [1 ,3 ,4 ]
机构：
[1] Pusan Natl Univ, Sch Med, Dept Pediat, Childrens Hosp, Yangsan, South Korea
[2] Chungnam Natl Univ, Dept Pediat, Coll Med, Daejeon, South Korea
[3] Pusan Natl Univ, Res Inst Convergence Biomed Sci & Technol, Yangsan Hosp, Yangsan, South Korea
[4] Pusan Natl Univ, Sch Med, Dept Pediat, Div Pediat Endocrinol,Childrens Hosp, 20 Geumo Ro, Yangsan 50612, South Korea
来源：
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2024年 / 29卷 / 02期
关键词：
D O I：
10.6065/apem.2346150.075
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：135 / 137
页数：3
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