Associated Papers
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L et al.
Journal of Medical Genetics, 2023
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
Akamine S et al.
Epilepsia Open, 2018
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