Associated Papers
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
Centeno-Pla M et al.
Journal of Medical Genetics, 2024
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
36243518 (PubMed )
Supplement: jmg-2022-108690supp004.xlsx › Suppl._Table_4
Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.
Chen X et al.
Medicine, 2020
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.
Xiao B et al.
Molecular Syndromology, 2020
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D et al.
American Journal of Human Genetics, 2015
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