Article
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.
Medical science monitor : international medical journal of experimental and clinical research - 2 Apr 2015
Yuan Jing, Li Song, Xu YeYe, Cong Lin
Abstract excerpt
BACKGROUND: Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. MATERIAL/METHODS: Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate...
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