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

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

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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