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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40739497 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Peng+J%22">Peng J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Xie+Y%22">Xie Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Ophthalmology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100020, China.<br /><searchLink fieldCode="AU" term="%22Huang+L%22">Huang L</searchLink>; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, China.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Li+N%22">Li N</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100967802%22">BMC ophthalmology</searchLink> [BMC Ophthalmol] 2025 Jul 30; Vol. 25 (1), pp. 437. <i>Date of Electronic Publication: </i>2025 Jul 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967802 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2415 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712415%22">14712415 </searchLink><i>NLM ISO Abbreviation: </i>BMC Ophthalmol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40739497 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12886-025-04261-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 437 Titles: – TitleFull: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Peng J – PersonEntity: Name: NameFull: Xie Y – PersonEntity: Name: NameFull: Wang H – PersonEntity: Name: NameFull: Huang L – PersonEntity: Name: NameFull: Yang Y – PersonEntity: Name: NameFull: Li N IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 07 Text: 2025 Jul 30 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1471-2415 Numbering: – Type: volume Value: 25 – Type: issue Value: 1 Titles: – TitleFull: BMC ophthalmology Type: main |
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