A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2025-02-01
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| Series: | International Journal of Ophthalmology |
| Online Access: | http://ies.ijo.cn/en_publish/2025/2/20250224.pdf |
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| _version_ | 1841526928430858240 |
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| author | Qiu-Mei Gu Xue-Fei He Wen-Zhe Xiao Chao Qu |
| author_facet | Qiu-Mei Gu Xue-Fei He Wen-Zhe Xiao Chao Qu |
| author_sort | Qiu-Mei Gu |
| collection | DOAJ |
| format | Article |
| id | doaj-art-0fd0c56c35644d4b887f4725cc42e9a1 |
| institution | Kabale University |
| issn | 2222-3959 2227-4898 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | International Journal of Ophthalmology |
| spelling | doaj-art-0fd0c56c35644d4b887f4725cc42e9a12025-01-16T07:54:36ZengPress of International Journal of Ophthalmology (IJO PRESS)International Journal of Ophthalmology2222-39592227-48982025-02-0118237037410.18240/ijo.2025.02.2420250224A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case reportQiu-Mei Gu0Xue-Fei He1Wen-Zhe Xiao2Chao Qu3Chao Qu and Wen-Zhe Xiao. Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan People's Hospital, No.32, West Section 2, 1st Ring Road, Chengdu 610072, Sichuan Province, China. lucyjeffersonqu@hotmail.com; xiaowenzhe1999@163.comDepartment of Respiratory and Critical Care Medicine, Center for High Altitude Medicine, Institutes for Systems Genetics, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, ChinaDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan People's Hospital, Chengdu 610072, Sichuan Province, ChinaDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan People's Hospital, Chengdu 610072, Sichuan Province, Chinahttp://ies.ijo.cn/en_publish/2025/2/20250224.pdf |
| spellingShingle | Qiu-Mei Gu Xue-Fei He Wen-Zhe Xiao Chao Qu A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report International Journal of Ophthalmology |
| title | A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report |
| title_full | A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report |
| title_fullStr | A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report |
| title_full_unstemmed | A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report |
| title_short | A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report |
| title_sort | novel frameshift mutation in the bcor gene is associated with oculo facio cardio dental syndrome a case report |
| url | http://ies.ijo.cn/en_publish/2025/2/20250224.pdf |
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