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
36243518 (PubMed )
Supplement: jmg-2022-108690supp004.xlsx › Suppl._Table_4
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
McCarthy JM et al.
Journal of Medical Genetics, 2018
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP et al.
Nature Genetics, 2013
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