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The adult phenotype of Schaaf-Yang syndrome

Abstract Background 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 childh...

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Principais autores: 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, Alma Kuechler
Formato: Artigo
Idioma:Inglês
Publicado: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Assuntos:
Schaaf-Yang syndrome
Prader–Willi syndrome
MAGEL2
Adult phenotype
Acceso en liña:http://link.springer.com/article/10.1186/s13023-020-01557-8
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