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^*

^*Corresponding author for this work

Institute of Biomedical Informatics

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Original language	English
Pages (from-to)	102-104
Number of pages	3
Journal	Pediatrics and Neonatology
Volume	60
Issue number	1
DOIs	https://doi.org/10.1016/j.pedneo.2018.04.002
State	Published - Feb 2019

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10.1016/j.pedneo.2018.04.002

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@article{428e3843231f45b1a3dba102e4d06056,

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",

month = feb,

doi = "10.1016/j.pedneo.2018.04.002",

language = "English",

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T1 - Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs

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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U2 - 10.1016/j.pedneo.2018.04.002

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M3 - Article

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AN - SCOPUS:85047091437

SN - 1875-9572

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SP - 102

EP - 104

JO - Pediatrics and Neonatology

JF - Pediatrics and Neonatology

IS - 1

ER -

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

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