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• W2790429892 abstract "Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers. These findings have expanded the genotypic spectrum of the OI/EDS overlap syndrome." @default.
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• W2790429892 date "2018-01-01" @default.
• W2790429892 modified "2023-10-12" @default.
• W2790429892 title "Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man" @default.
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• W2790429892 doi "https://doi.org/10.5582/irdr.2018.01010" @default.
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