Emergence of the Natural History of Myhre Syndrome: 47 Patients Evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

    Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom … MGH Myhre Syndrome Study Group
    Studysummary This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
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    Research cited in this study 1

    1. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012