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Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

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Title: Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
Authors: Liaqat K; Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA., Felipe K; Indiana University School of Medicine, Indianapolis, IN, USA., Treat K; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA., McPheron M; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA., Weaver DD; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA., Conboy E; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA.
Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2025 Apr; Vol. 29 (4), pp. 120-128.
Publication Type: Journal Article; Case Reports; Review
Journal Info: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
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  Data: <searchLink fieldCode="AU" term="%22Liaqat+K%22">Liaqat K</searchLink>; Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Felipe+K%22">Felipe K</searchLink>; Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Treat+K%22">Treat K</searchLink>; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22McPheron+M%22">McPheron M</searchLink>; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Weaver+DD%22">Weaver DD</searchLink>; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Department of Medical and Molecular Genetics, IN University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), IN University School of Medicine, Indianapolis, Indiana, USA.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mary+Ann+Liebert%2C+Inc%22">Mary Ann Liebert, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101494210 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1945-0257 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219450257%22">19450257 </searchLink><i>NLM ISO Abbreviation: </i>Genet Test Mol Biomarkers <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1089/gtmb.2025.0042
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      – Code: eng
        Text: English
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        StartPage: 120
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      – TitleFull: Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
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            NameFull: Liaqat K
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            – D: 01
              M: 04
              Text: 2025 Apr
              Type: published
              Y: 2025
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              Value: 1945-0257
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            – TitleFull: Genetic testing and molecular biomarkers
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