The adult phenotype of Schaaf-Yang syndrome

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...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Schaaf-Yang syndrome
Prader–Willi syndrome
MAGEL2
Adult phenotype
Online Access:http://link.springer.com/article/10.1186/s13023-020-01557-8

Internet

http://link.springer.com/article/10.1186/s13023-020-01557-8

Similar Items