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

Rai Hseng Hsu; Wuh Liang Hwu; Ming Chen; I. Fang Chung; Steven Shinn Forng Peng; Chen Yang Chen; Wei Chung Cheng; Yin Hsiu Chien; Ni Chung Lee

doi:10.1016/j.pedneo.2018.04.002

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

Rai Hseng Hsu, Wuh Liang Hwu, Ming Chen, I. Fang Chung, Steven Shinn Forng Peng, Chen Yang Chen, Wei Chung Cheng, Yin Hsiu Chien, Ni Chung Lee^*

^*此作品的通信作者

生物醫學資訊研究所

研究成果: Article › 同行評審

4 引文斯高帕斯（Scopus）

原文	English
頁（從 - 到）	102-104
頁數	3
期刊	Pediatrics and Neonatology
卷	60
發行號	1
DOIs	https://doi.org/10.1016/j.pedneo.2018.04.002
出版狀態	Published - 2月 2019

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10.1016/j.pedneo.2018.04.002

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Link to publication in Scopus

引用此

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title = "Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs",

author = "Hsu, {Rai Hseng} and Hwu, {Wuh Liang} and Ming Chen and Chung, {I. Fang} and Peng, {Steven Shinn Forng} and Chen, {Chen Yang} and Cheng, {Wei Chung} and Chien, {Yin Hsiu} and Lee, {Ni Chung}",

year = "2019",

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AU - Hsu, Rai Hseng

AU - Hwu, Wuh Liang

AU - Chen, Ming

AU - Chung, I. Fang

AU - Peng, Steven Shinn Forng

AU - Chen, Chen Yang

AU - Cheng, Wei Chung

AU - Chien, Yin Hsiu

AU - Lee, Ni Chung

PY - 2019/2

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DO - 10.1016/j.pedneo.2018.04.002

M3 - Article

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AN - SCOPUS:85047091437

SN - 1875-9572

VL - 60

SP - 102

EP - 104

JO - Pediatrics and Neonatology

JF - Pediatrics and Neonatology

IS - 1

ER -