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|a 10.3760/cma.j.issn.0578-1310.2020.02.013
|2 doi
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|a chi
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|a Luo, Y F
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|a Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang
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|c 2020
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|a Text
|b txt
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|a ƒaComputermedien
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|a Date Completed 16.03.2020
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|a Date Revised 04.12.2021
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|a published: Print
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|a Citation Status MEDLINE
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|a Objective: To explore the genotypes and phenotypes of osteogenesis imperfecta (OI) in Xinjiang Uygur children. Methods: The history of nine Uygur children with OI who were hospitalized in First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2017 were retrospectively reviewed. They were classified into 4 types according to the classical Sillence classification. The genes associated with OI were detected, and the pathogenic variation was assessed by InterVar and Alamut software according to the American College of Medical Genetics and Genomics (ACMG) recommendations. The phenotypes of children with different genotypes were further analyzed. Results: Nine cases aged 3 years and 6 monthes to 15 years were all clinically diagnosed as OI, the clinical manifes tations were repeated fractures, skeletal deformities,short stature, blue sclera, abnormol hearing, hypoplasia of dentin, and relaxation of Joint ligaments, among whom 6 was type Ⅲ OI, 3 were type Ⅳ OI. Nine mutations in 3 genes (COL1A1, COL1A2, and SERPINF1) were detected, and 5 of them were first reported and were all pathogenic variations. Conclusions: The cinical phenotypes of osteogenesis imperfecta in Xinjiang Uygur are complex and varied, but all of them have fractures and skeletal deformities. Genotype is different from that reported at China and abroad, and the SERPINF1 gene may have a higher incidence in Uyghur population. The genetic heterogeneity and unique gene variation pedigree of Uyghur osteogenesis imperfecta defects further provide a basis for the correlation between genotype and phenotype of osteogenesis defects
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|a Journal Article
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|a Genes
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|a Osteogenesis imperfecta
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|a Phenotype
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|a Dilihuma, Julaiti
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|a Sun, G H
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|a Reyilanmu, Baoerhan
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|t Zhonghua er ke za zhi = Chinese journal of pediatrics
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|g 58(2020), 2 vom: 02. Feb., Seite 135-139
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|u http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.013
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