The adult phenotype of Schaaf-Yang syndrome

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 t...

Source: Orphanet Journal of Rare Diseases - October 19, 2020 Category: Internal Medicine Authors: Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-W ödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf and Alma Kuechler Tags: Research Source Type: research