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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Bruns+R%22">Bruns R</searchLink>; Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Liaqat+K%22">Liaqat K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nasir+A%22">Nasir A</searchLink>; Department of Anesthesiology, Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Treat+K%22">Treat K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Murthy+VS%22">Murthy VS</searchLink>; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Mantcheva+L%22">Mantcheva L</searchLink>; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Torres+W%22">Torres W</searchLink>; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229306292%22">Congenital anomalies</searchLink> [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 155-160. <i>Date of Electronic Publication: </i>2024 Mar 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley+on+behalf+of+the+Japanese+Teratology+Society%22">Wiley on behalf of the Japanese Teratology Society </searchLink><i>Country of Publication: </i>Australia <i>NLM ID: </i>9306292 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1741-4520 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209143505%22">09143505 </searchLink><i>NLM ISO Abbreviation: </i>Congenit Anom (Kyoto) <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38520260
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      – Type: doi
        Value: 10.1111/cga.12566
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      – Code: eng
        Text: English
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        StartPage: 155
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      – TitleFull: 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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            – D: 01
              M: 05
              Text: 2024 May
              Type: published
              Y: 2024
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