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- W2015364069 abstract "Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation." @default.
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- W2015364069 date "2014-01-01" @default.
- W2015364069 modified "2023-09-25" @default.
- W2015364069 title "A Case of Familial Stickler Syndrome in a Newborn withCOL2A1Gene Mutation" @default.
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- W2015364069 doi "https://doi.org/10.14734/kjp.2014.25.2.100" @default.
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