An additional patient with SMAD4‐Juvenile Polyposis‐Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss‐of‐function and gain‐of‐function pathogenic variants result in contrasting phenotypes

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作者： Gregory M. Gheewalla ^[1] ; Jay Luther ^[2] ; Saumya Das ^[3] ; Jeffrey B. Kreher ^[4] ; Eleanor R. Scimone ^[5] ; Ashley W. Wong ^[6] ; Mark E. Lindsay ; Angela E. Lin

作者单位： Tufts University School of Medicine ^[1] Division of Gastroenterology, Department of Internal Medicine, MGB Alcohol Liver Center,Mass ^[2] Department of Medicine, Cardiovascular Research Center,Mass General Brigham ^[3] Division of Pediatric Orthopaedics, Department of Orthopaedics,Mass General Brigham ^[4] Department of Pediatrics, Genetics Unit, Mass General Brigham for Children ^[5] Cardiovascular Genetics Program, Cardiology Division, Department of Medicine,Mass General Brigham ^[6]

关键词 aortic dilation hypermobility mitral valve prolapse Myhre syndrome

发布时间 2023-01-12

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