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Article

Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III.

Gynecologic and obstetric investigation - 1 Jan 2020

Wang Wenbo, Wu Qichang, Cao Lin, Sun Li, Xu Yasong, Guo Qiwei

Abstract excerpt

AIM: To analyze COL1A1/2 mutations in prenatal-onset OI for determine the proportion of mutations in type I collagen genes among prenatal onset OI and to provide additional data for genotype-phenotype analyses. MATERIAL AND METHODS: Ten cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to our center. Before the termination of pregnancy, cordocentesis was performed for...

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PMID: 25633413
DOI: 10.1159/000370196

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