Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
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| Title: | Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. |
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| Authors: | Souzeau E; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Siggs OM; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Pasutto F; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Knight LSW; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Perez-Jurado LA; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; South Australia Health and Medical Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain., McGregor L; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Le Blanc S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Liebelt J; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Craig JE; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 434-439. Date of Electronic Publication: 2020 Nov 24. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33231930 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Souzeau+E%22">Souzeau E</searchLink>; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Siggs+OM%22">Siggs OM</searchLink>; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Pasutto+F%22">Pasutto F</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Knight+LSW%22">Knight LSW</searchLink>; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Perez-Jurado+LA%22">Perez-Jurado LA</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; South Australia Health and Medical Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22McGregor+L%22">McGregor L</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Le+Blanc+S%22">Le Blanc S</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Liebelt+J%22">Liebelt J</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Craig+JE%22">Craig JE</searchLink>; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 434-439. <i>Date of Electronic Publication: </i>2020 Nov 24. – 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33231930 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61982 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 434 Titles: – TitleFull: Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Souzeau E – PersonEntity: Name: NameFull: Siggs OM – PersonEntity: Name: NameFull: Pasutto F – PersonEntity: Name: NameFull: Knight LSW – PersonEntity: Name: NameFull: Perez-Jurado LA – PersonEntity: Name: NameFull: McGregor L – PersonEntity: Name: NameFull: Le Blanc S – PersonEntity: Name: NameFull: Barnett CP – PersonEntity: Name: NameFull: Liebelt J – PersonEntity: Name: NameFull: Craig JE IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2021 Feb Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 185 – Type: issue Value: 2 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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