Identification of the CFAP410 pathogenic variants in a Korean patient with autosomal recessive retinitis pigmentosa and skeletal anomalies

Dong Hoon Shin; Ah Reum Kim; Hye In Woo; Ja Hyun Jang; Woong Yang Park; Byoung Joon Kim; Sang Jin Kim

doi:10.3341/KJO.2020.0087

Identification of the CFAP410 pathogenic variants in a Korean patient with autosomal recessive retinitis pigmentosa and skeletal anomalies

Dong Hoon Shin
, Ah Reum Kim
, Hye In Woo
, Ja Hyun Jang
, Woong Yang Park
, Byoung Joon Kim
, Sang Jin Kim

Hangil Eye Hospital
Sungkyunkwan University

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

7 Scopus citations

Original language	English
Pages (from-to)	500-502
Number of pages	3
Journal	Korean Journal of Ophthalmology
Volume	34
Issue number	6
DOIs	https://doi.org/10.3341/KJO.2020.0087
State	Published - Dec 2020

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10.3341/KJO.2020.0087

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@article{75465db2f6d24280aa904c32ed511be9,

title = "Identification of the CFAP410 pathogenic variants in a Korean patient with autosomal recessive retinitis pigmentosa and skeletal anomalies",

author = "Shin, \{Dong Hoon\} and Kim, \{Ah Reum\} and Woo, \{Hye In\} and Jang, \{Ja Hyun\} and Park, \{Woong Yang\} and Kim, \{Byoung Joon\} and Kim, \{Sang Jin\}",

year = "2020",

month = dec,

doi = "10.3341/KJO.2020.0087",

language = "English",

volume = "34",

pages = "500--502",

journal = "Korean Journal of Ophthalmology",

issn = "1011-8942",

publisher = "Korean Ophthalmological Society (KOS)",

number = "6",

}

TY - JOUR

T1 - Identification of the CFAP410 pathogenic variants in a Korean patient with autosomal recessive retinitis pigmentosa and skeletal anomalies

AU - Shin, Dong Hoon

AU - Kim, Ah Reum

AU - Woo, Hye In

AU - Jang, Ja Hyun

AU - Park, Woong Yang

AU - Kim, Byoung Joon

AU - Kim, Sang Jin

PY - 2020/12

Y1 - 2020/12

UR - https://www.scopus.com/pages/publications/85099019859

U2 - 10.3341/KJO.2020.0087

DO - 10.3341/KJO.2020.0087

M3 - Letter

AN - SCOPUS:85099019859

SN - 1011-8942

VL - 34

SP - 500

EP - 502

JO - Korean Journal of Ophthalmology

JF - Korean Journal of Ophthalmology

IS - 6

ER -

Identification of the CFAP410 pathogenic variants in a Korean patient with autosomal recessive retinitis pigmentosa and skeletal anomalies

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