A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
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| Title: | A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. |
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| Authors: | Elbagoury NM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. nm.el-bagoury@nrc.sci.eg.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. nm.el-bagoury@nrc.sci.eg., Tawfik CA; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Watany Eye Hospital, Cairo, Egypt., Abdel-Aleem AF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Fathy HM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Baddar DN; Watany Eye Hospital, Cairo, Egypt.; Research Institute of Ophthalmology, Giza, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 May 25; Vol. 20 (1), pp. 248. Date of Electronic Publication: 2025 May 25. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40414863 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Elbagoury+NM%22">Elbagoury NM</searchLink>; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. nm.el-bagoury@nrc.sci.eg.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. nm.el-bagoury@nrc.sci.eg.<br /><searchLink fieldCode="AU" term="%22Tawfik+CA%22">Tawfik CA</searchLink>; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Watany Eye Hospital, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Aleem+AF%22">Abdel-Aleem AF</searchLink>; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Fathy+HM%22">Fathy HM</searchLink>; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Baddar+DN%22">Baddar DN</searchLink>; Watany Eye Hospital, Cairo, Egypt.; Research Institute of Ophthalmology, Giza, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 May 25; Vol. 20 (1), pp. 248. <i>Date of Electronic Publication: </i>2025 May 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – 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>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40414863 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03813-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 248 Titles: – TitleFull: A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Elbagoury NM – PersonEntity: Name: NameFull: Tawfik CA – PersonEntity: Name: NameFull: Abdel-Aleem AF – PersonEntity: Name: NameFull: Fathy HM – PersonEntity: Name: NameFull: Baddar DN – PersonEntity: Name: NameFull: Essawi ML IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 05 Text: 2025 May 25 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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