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• W2968210574 abstract "Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS, SYS and PWS, and analyze genotype-phenotype correlations among them. We conclude that there is neither a clinical nor etiological difference between CHS and SYS, and propose that the two syndromes simply be referred to as MAGEL2-related disorders." @default.
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• W2968210574 date "2019-08-22" @default.
• W2968210574 modified "2023-10-15" @default.
• W2968210574 title "<i>MAGEL2</i> ‐related disorders: A study and case series" @default.
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• W2968210574 doi "https://doi.org/10.1111/cge.13620" @default.
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