First clinical guideline on Schaaf-Yang syndrome for professionals and families
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26 October 2022First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of the first clinical guideline aimed at health care professionals and families of children affected by it. The article, published in the Journal of Medical Genetics, has revealed the effects of the truncated MAGEL2 protein on cell physiology.
