Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

BACKGROUND: Schaaf-Yang syndrome (SYS) is a rare genetic disorder caused by pathogenic variants in MAGEL2, a paternally expressed and maternally imprinted gene on 15q11.2. Genetic diagnosis of SYS is challenging due to clinical features that overlap…

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