Associated Papers
The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.
Dos Santos HM et al.
Journal of Child Neurology, 2026
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
The adult phenotype of Schaaf-Yang syndrome.
Marbach F et al.
Orphanet Journal of Rare Diseases, 2020
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