Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs

被引：4

作者：

Hsu, Rai-Hseng ^{[1
,2
,3
]}

Hwu, Wuh-Liang ^{[1
,2
]}

Chen, Ming ^{[4
,5
,6
]}

Chung, I-Fang ^{[7
]}

Peng, Steven Shinn-Forng ^{[8
]}

Chen, Chen-Yang ^{[7
]}

Cheng, Wei-Chung ^{[9
,10
]}

Chien, Yin-Hsiu ^{[1
,2
]}

Lee, Ni-Chung ^{[1
,2
]}

机构：

[1] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

[2] Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan

[3] Taipei Med Univ Hosp, Dept Pediat, Taipei, Taiwan

[4] Changhua Christian Hosp, Dept Med Res, Ctr Med Genet, Changhua, Taiwan

[5] Changhua Christian Hosp, Dept Genom Med, Ctr Med Genet, Changhua, Taiwan

[6] Changhua Christian Hosp, Dept Obstet & Gynecol, Changhua, Taiwan

[7] Natl Yang Ming Univ, Inst BioMed Informat, Taipei, Taiwan

[8] Natl Taiwan Univ Hosp, Dept Med Imaging, Taipei, Taiwan

[9] China Med Univ, Res Ctr Tumor Med Sci, Taichung 40402, Taiwan

[10] China Med Univ, Grad Inst Canc Biol, Taichung 40402, Taiwan

来源：

关键词：

D O I：

10.1016/j.pedneo.2018.04.002

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：102 / 104

页数：3

共 7 条

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