Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

被引:14
作者
Jin, Hyung Suk [1 ]
Song, Ho Young [2 ]
Cho, Sung Yoon [3 ]
Ki, Chang-Seok [4 ]
Yang, Song Hyun [1 ]
Kim, Ok-Hwa [5 ]
Kim, Su Jin [2 ]
机构
[1] Green Cross Labs, Yongin, South Korea
[2] Seonam Univ, Coll Med, Myongji Hosp, Dept Pediat, 55 Hwasu Ro 14 Beon Gil, Goyang 10475, South Korea
[3] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul, South Korea
[4] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul, South Korea
[5] Woorisoa Childrens Hosp, Dept Radiol, Seoul, South Korea
关键词
WEILL-MARCHESANI-SYNDROME; CHILDREN; GENE;
D O I
10.3343/alm.2017.37.1.92
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:92 / 94
页数:3
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