CLINICAL REPORT A Co-Occurrence of Osteogenesis Imperfecta Type VI and Cystinosis
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چکیده
A Co-Occurrence of Osteogenesis Imperfecta Type VI and Cystinosis Tracy Tucker, Tanya Nelson, Sandra Sirrs, Peter Roughley, Francis H. Glorieux, Pierre Moffatt, Kamilla Schlade-Bartusiak, Lindsay Brown, and Frank Rauch* Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Adult Metabolic Diseases Clinic, Vancouver General Hospital, University of British Columbia, Vancouver, British Columbia, Canada Genetics Unit, Shriners Hospital for Children, and McGill University, Montreal, Canada
منابع مشابه
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Osteogenesis imperfecta type VI (OI type VI) is a rare autosomal recessive disorder caused by mutations in the SERPINF1 gene that encodes pigment epithelium-derived factor (PEDF). Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the CTNS gene. Both SERPINF1 and CTNS are located on chromosome 17p13.3. We describe an individual presenting with both OI type ...
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