Associated Papers
Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.
Huang Z et al.
Annals of Translational Medicine, 2023
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L et al.
Journal of Medical Genetics, 2023
A nationwide survey of Schaaf-Yang syndrome in Japan.
Negishi Y et al.
Journal of Human Genetics, 2022
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Negishi Y et al.
Orphanet Journal of Rare Diseases, 2019
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Jobling R et al.
Journal of Medical Genetics, 2018
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