MAGEL2-related disorders: A study and case series.
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ABSTRACT:
SUBMITTER: Patak J
PROVIDER: S-EPMC6864226 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
MAGEL2-related disorders: A study and case series.
Patak Jameson J Gilfert James J Byler Melissa M Neerukonda Vamsee V Thiffault Isabelle I Cross Laura L Amudhavalli Shivarajan S Pacio-Miguez Marta M Palomares-Bralo Maria M Garcia-Minaur Sixto S Santos-Simarro Fernando F Powis Zoe Z Alcaraz Wendy W Tang Sha S Jurgens Julie J Barry Brenda B England Eleina E Engle Elizabeth E Hess Jonathon J Lebel Robert R RR
Clinical genetics 20190822 6
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 ...[more]
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