Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
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| Title: | Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. |
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| Authors: | Siggs OM; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia., Souzeau E; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia., Breen J; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Qassim A; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia., Zhou T; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia., Dubowsky A; SA Pathology, Flinders Medical Centre, Adelaide, Australia., Ruddle JB; Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, Australia., Craig JE; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia. |
| Source: | Molecular vision [Mol Vis] 2019 Sep 21; Vol. 25, pp. 527-534. Date of Electronic Publication: 2019 Sep 21 (Print Publication: 2019). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31700225 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Siggs+OM%22">Siggs OM</searchLink>; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Souzeau+E%22">Souzeau E</searchLink>; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Breen+J%22">Breen J</searchLink>; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Qassim+A%22">Qassim A</searchLink>; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Zhou+T%22">Zhou T</searchLink>; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Dubowsky+A%22">Dubowsky A</searchLink>; SA Pathology, Flinders Medical Centre, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Ruddle+JB%22">Ruddle JB</searchLink>; Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Craig+JE%22">Craig JE</searchLink>; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229605351%22">Molecular vision</searchLink> [Mol Vis] 2019 Sep 21; Vol. 25, pp. 527-534. <i>Date of Electronic Publication: </i>2019 Sep 21 (<i>Print Publication: </i>2019). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Molecular+Vision%22">Molecular Vision </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9605351 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1090-0535 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210900535%22">10900535 </searchLink><i>NLM ISO Abbreviation: </i>Mol Vis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31700225 |
| RecordInfo | BibRecord: BibEntity: Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 527 Titles: – TitleFull: Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Siggs OM – PersonEntity: Name: NameFull: Souzeau E – PersonEntity: Name: NameFull: Breen J – PersonEntity: Name: NameFull: Qassim A – PersonEntity: Name: NameFull: Zhou T – PersonEntity: Name: NameFull: Dubowsky A – PersonEntity: Name: NameFull: Ruddle JB – PersonEntity: Name: NameFull: Craig JE IsPartOfRelationships: – BibEntity: Dates: – D: 21 M: 09 Text: 2019 Sep 21 Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1090-0535 Numbering: – Type: volume Value: 25 Titles: – TitleFull: Molecular vision Type: main |
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