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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ISSN:1945-0257
DOI:10.1089/gtmb.2025.0042