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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Brizola, Evelise; Gnoli, Maria; Tremosini, Morena; Nucci, Paolo; Bargiacchi, Sara; La Barbera, Andrea; Giglio, Sabrina; Sangiorgi, Luca.
Affiliation
  • Brizola E; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Gnoli M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Tremosini M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Nucci P; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
  • Bargiacchi S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • La Barbera A; Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.
  • Giglio S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Sangiorgi L; Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.
Mol Genet Genomic Med ; 8(9): e1353, 2020 09.
Article in En | MEDLINE | ID: mdl-32558342
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthritis / Retinal Detachment / Connective Tissue Diseases / Collagen Type XI / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthritis / Retinal Detachment / Connective Tissue Diseases / Collagen Type XI / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: