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| Verfasst von: | Marbach, Felix [VerfasserIn]  |
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| | Elgizouli, Magdeldin [VerfasserIn] |
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| | Rech, Megan E. [VerfasserIn] |
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| | Beygo, Jasmin [VerfasserIn] |
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| | Erger, Florian [VerfasserIn] |
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| | Velmans, Clara Helene [VerfasserIn] |
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| | Stumpel, Constance T. R. M. [VerfasserIn] |
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| | Stegmann, Alexander P. A. [VerfasserIn] |
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| | Beck-Wödl, Stefanie [VerfasserIn] |
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| | Gillessen-Kaesbach, Gabriele [VerfasserIn] |
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| | Horsthemke, Bernhard [VerfasserIn] |
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| | Schaaf, Christian P. [VerfasserIn] |
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| | Küchler, Alma [VerfasserIn] |
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| Titel: | The adult phenotype of Schaaf-Yang syndrome |
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| Verf.angabe: | Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, and Alma Kuechler |
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| E-Jahr: | 2020 |
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| Jahr: | 19 October 2020 |
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| Umfang: | 11 S. |
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| Fussnoten: | Gesehen am 30.11.2020 |
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| Titel Quelle: | Enthalten in: Orphanet journal of rare diseases |
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| Ort Quelle: | London : BioMed Central, 2006 |
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| Jahr Quelle: | 2020 |
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| Band/Heft Quelle: | 15(2020) Artikel-Nummer 294, 11 Seiten |
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| ISSN Quelle: | 1750-1172 |
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| Abstract: | MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood. |
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| DOI: | doi:10.1186/s13023-020-01557-8 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1186/s13023-020-01557-8 |
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| | DOI: https://doi.org/10.1186/s13023-020-01557-8 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1741453615 |
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| Verknüpfungen: | → Zeitschrift |
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¬The¬ adult phenotype of Schaaf-Yang syndrome / Marbach, Felix [VerfasserIn]; 19 October 2020 (Online-Ressource)
