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
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
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R et al.
Scientific Reports, 2017
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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