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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.

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第一作者： Evelise,Brizola

第一单位： Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

作者： Evelise,Brizola ^[1] ; Maria,Gnoli ^[1] ; Morena,Tremosini ^[1] ; Paolo,Nucci ^[2] ; Sara,Bargiacchi ^[3] ; Andrea,La Barbera ^[4] ; Sabrina,Giglio ^[5] ; Luca,Sangiorgi ^[6]

作者单位： Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. ^[1] Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. ^[2] Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. ^[3] Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy. ^[4] Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.;Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.;Excellence Centre for Research, Transfer and High Education for the development of DE NOVO Therapies (DENOTHE), Florence, Italy. ^[5] Department of Rare Skeletal Disorders & CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. ^[6]

关键词 COL11A1 early myopia hearing loss novel mutation stickler syndrome