Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.
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| Title: | Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. |
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| Authors: | Sklar BA; Department of Ophthalmology, Wills Eye Hospital, Philadelphia PA., Pisuchpen P; Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand., Bareket M; Department of Ophthalmology, Kaplan Medical Center, Rehovot, Israel., Milman T; Eye Pathology Department, Wills Eye Hospital, Philadelphia PA., Eagle RC Jr; Eye Pathology Department, Wills Eye Hospital, Philadelphia PA., Minor J; Pediatric and Adult Strabismus Service, Wills Eye Hospital, Philadelphia PA., Procopio R; Ocular Genetics, Wills Eye Hospital, Philadelphia PA., Capasso J; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY; and., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY; and., Hammersmith K; Cornea Service, Wills Eye Hospital, Philadelphia PA. |
| Source: | Cornea [Cornea] 2023 Dec 01; Vol. 42 (12), pp. 1572-1577. Date of Electronic Publication: 2023 Sep 15. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8216186 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4798 (Electronic) Linking ISSN: 02773740 NLM ISO Abbreviation: Cornea Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37713669 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sklar+BA%22">Sklar BA</searchLink>; Department of Ophthalmology, Wills Eye Hospital, Philadelphia PA.<br /><searchLink fieldCode="AU" term="%22Pisuchpen+P%22">Pisuchpen P</searchLink>; Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Bareket+M%22">Bareket M</searchLink>; Department of Ophthalmology, Kaplan Medical Center, Rehovot, Israel.<br /><searchLink fieldCode="AU" term="%22Milman+T%22">Milman T</searchLink>; Eye Pathology Department, Wills Eye Hospital, Philadelphia PA.<br /><searchLink fieldCode="AU" term="%22Eagle+RC+Jr%22">Eagle RC Jr</searchLink>; Eye Pathology Department, Wills Eye Hospital, Philadelphia PA.<br /><searchLink fieldCode="AU" term="%22Minor+J%22">Minor J</searchLink>; Pediatric and Adult Strabismus Service, Wills Eye Hospital, Philadelphia PA.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Ocular Genetics, Wills Eye Hospital, Philadelphia PA.<br /><searchLink fieldCode="AU" term="%22Capasso+J%22">Capasso J</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY; and.<br /><searchLink fieldCode="AU" term="%22Levin+AV%22">Levin AV</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY; and.<br /><searchLink fieldCode="AU" term="%22Hammersmith+K%22">Hammersmith K</searchLink>; Cornea Service, Wills Eye Hospital, Philadelphia PA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228216186%22">Cornea</searchLink> [Cornea] 2023 Dec 01; Vol. 42 (12), pp. 1572-1577. <i>Date of Electronic Publication: </i>2023 Sep 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8216186 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1536-4798 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202773740%22">02773740 </searchLink><i>NLM ISO Abbreviation: </i>Cornea <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37713669 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1097/ICO.0000000000003372 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1572 Titles: – TitleFull: Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sklar BA – PersonEntity: Name: NameFull: Pisuchpen P – PersonEntity: Name: NameFull: Bareket M – PersonEntity: Name: NameFull: Milman T – PersonEntity: Name: NameFull: Eagle RC Jr – PersonEntity: Name: NameFull: Minor J – PersonEntity: Name: NameFull: Procopio R – PersonEntity: Name: NameFull: Capasso J – PersonEntity: Name: NameFull: Levin AV – PersonEntity: Name: NameFull: Hammersmith K IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2023 Dec 01 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1536-4798 Numbering: – Type: volume Value: 42 – Type: issue Value: 12 Titles: – TitleFull: Cornea Type: main |
| ResultId | 1 |
