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MAGEL2 and Oxytocin—Implications in Prader-Willi Syndrome and Beyond

  • Michael D. Fountain Jr.
    Affiliations
    Translational Biology and Molecular Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

    Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas.
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  • Christian P. Schaaf
    Correspondence
    Address correspondence to Christian P. Schaaf, M.D., Ph.D., Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, 1250 Moursund Street, Suite 1325, Houston, TX 77030
    Affiliations
    Translational Biology and Molecular Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

    Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas.
    Search for articles by this author
      Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that is due to alterations of paternally expressed genes on chromosome 15. In the first years of life, individuals with PWS manifest hypotonia, feeding difficulties, failure to thrive, and developmental delays. The phenotype emerges over time and includes short stature, hypogonadism, intellectual disability, and a characteristic behavior profile. Most notably, individuals typically develop hyperphagia, potentially leading to life-threatening obesity (
      • Cassidy S.B.
      • Schwartz S.
      • Miller J.L.
      • Driscoll D.J.
      Prader-Willi syndrome.
      ).
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