Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
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| Title: | Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey. |
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| Authors: | Bruns R; Indiana University School of Medicine, Indianapolis, Indiana, USA., Liaqat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Nasir A; Department of Anesthesiology, Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Treat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Murthy VS; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA., Mantcheva L; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Torres W; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA., Conboy E; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA. |
| Source: | Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 155-160. Date of Electronic Publication: 2024 Mar 23. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1741-4520 |
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| DOI: | 10.1111/cga.12566 |
