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
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
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A 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
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