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
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.
Duan Y et al.
Medicine, 2021
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
MAGEL2-related disorders: A study and case series.
Patak J et al.
Clinical Genetics, 2019
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
Enya T et al.
American Journal of Medical Genetics. Part A, 2018
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