The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report

Ji Hye Lee; Shin Hae Park; Ji Sook Yim; Myung Shin Kim; Sin Young Kim

doi:10.3341/kjo.2022.0144

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report

Ji Hye Lee, Shin Hae Park, Ji Sook Yim, Myung Shin Kim, Sin Young Kim

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

3 Scopus citations

Original language	English
Pages (from-to)	195-197
Number of pages	3
Journal	Korean journal of ophthalmology : KJO
Volume	37
Issue number	2
DOIs	https://doi.org/10.3341/kjo.2022.0144
State	Published - Apr 2023

Bibliographical note

Funding Information:
Conflicts of Interest: None. Acknowledgements: None. Funding: This study was supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF), funded by the the Ministry of Science and ICT of Korea (No. NRF-2016R1C1B1016590), and by the Man-Soo Kim Research Fund from the Department of Ophthalmology, College of Medicine, The Catholic University of Korea (Seoul, Korea) in 2022.

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title = "The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report",

author = "Lee, {Ji Hye} and Park, {Shin Hae} and Yim, {Ji Sook} and Kim, {Myung Shin} and Kim, {Sin Young}",

note = "Funding Information: Conflicts of Interest: None. Acknowledgements: None. Funding: This study was supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF), funded by the the Ministry of Science and ICT of Korea (No. NRF-2016R1C1B1016590), and by the Man-Soo Kim Research Fund from the Department of Ophthalmology, College of Medicine, The Catholic University of Korea (Seoul, Korea) in 2022.",

year = "2023",

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doi = "10.3341/kjo.2022.0144",

language = "English",

volume = "37",

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T1 - The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4)

T2 - A Case Report

AU - Lee, Ji Hye

AU - Park, Shin Hae

AU - Yim, Ji Sook

AU - Kim, Myung Shin

AU - Kim, Sin Young

N1 - Funding Information: Conflicts of Interest: None. Acknowledgements: None. Funding: This study was supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF), funded by the the Ministry of Science and ICT of Korea (No. NRF-2016R1C1B1016590), and by the Man-Soo Kim Research Fund from the Department of Ophthalmology, College of Medicine, The Catholic University of Korea (Seoul, Korea) in 2022.

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U2 - 10.3341/kjo.2022.0144

DO - 10.3341/kjo.2022.0144

M3 - Letter

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SP - 195

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JO - Korean journal of ophthalmology : KJO

JF - Korean journal of ophthalmology : KJO

IS - 2

ER -

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report

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