Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.
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| Title: | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. |
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| Authors: | Peng J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Sun Yat-sen University, Sun Yat-Sen University Zhongshan Ophthalmic Center, Guangzhou, 510060, Guangdong, China., Xie Y; Department of Ophthalmology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100020, China.; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China., Wang H; Department of Ophthalmology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100020, China., Huang L; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, China., Yang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Sun Yat-sen University, Sun Yat-Sen University Zhongshan Ophthalmic Center, Guangzhou, 510060, Guangdong, China. yangyangfan@gzzoc.com., Li N; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China. lnd30@163.com.; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, China. lnd30@163.com.; Department of Ophthalmology, Shanghai General Hospital, Shanghai, 200940, China. lnd30@163.com. |
| Source: | BMC ophthalmology [BMC Ophthalmol] 2025 Jul 30; Vol. 25 (1), pp. 437. Date of Electronic Publication: 2025 Jul 30. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1471-2415 |
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| DOI: | 10.1186/s12886-025-04261-y |
