A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.
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| Title: | A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature. |
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| Authors: | Olarewaju BA; School of Science and Engineering, University of Dundee, Nethergate, Dundee, UK., Tejon JB; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA., Abbas MT; Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, Arizona, USA., Shen JF; Department Ophthalmology, Mayo Clinic, Phoenix, Arizona, USA., Turkmani A; Department of Neurological Surgery, Mayo Clinic, Phoenix, Arizona, USA., Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Shen W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Osundiji MA; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64098. Date of Electronic Publication: 2025 Apr 21. |
| Publication Type: | Journal Article |
| 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; In Process |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40259702 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Olarewaju+BA%22">Olarewaju BA</searchLink>; School of Science and Engineering, University of Dundee, Nethergate, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Tejon+JB%22">Tejon JB</searchLink>; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Abbas+MT%22">Abbas MT</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Shen+JF%22">Shen JF</searchLink>; Department Ophthalmology, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Turkmani+A%22">Turkmani A</searchLink>; Department of Neurological Surgery, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Ellingson+MS%22">Ellingson MS</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Shen+W%22">Shen W</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Osundiji+MA%22">Osundiji MA</searchLink>; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA. – 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] 2025 Sep; Vol. 197 (9), pp. e64098. <i>Date of Electronic Publication: </i>2025 Apr 21. – 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="%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; In Process |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40259702 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.64098 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e64098 Titles: – TitleFull: A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Olarewaju BA – PersonEntity: Name: NameFull: Tejon JB – PersonEntity: Name: NameFull: Abbas MT – PersonEntity: Name: NameFull: Shen JF – PersonEntity: Name: NameFull: Turkmani A – PersonEntity: Name: NameFull: Ellingson MS – PersonEntity: Name: NameFull: Shen W – PersonEntity: Name: NameFull: Osundiji MA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2025 Sep Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 197 – Type: issue Value: 9 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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