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

Taipei Medical University Hospital

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

4 Citations (Scopus)

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
Publication status	Published - Feb 2019

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/j.pedneo.2018.04.002

Cite this

@article{c0ef124cc22a4756afcab71c56da9271,

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",

volume = "60",

pages = "102--104",

journal = "Pediatrics and Neonatology",

issn = "1875-9572",

publisher = "臺灣兒科醫學會",

number = "1",

}

TY - JOUR

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

Y1 - 2019/2

UR - http://www.scopus.com/inward/record.url?scp=85047091437&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85047091437&partnerID=8YFLogxK

U2 - 10.1016/j.pedneo.2018.04.002

DO - 10.1016/j.pedneo.2018.04.002

M3 - Article

C2 - 29776788

AN - SCOPUS:85047091437

SN - 1875-9572

VL - 60

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

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this