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Molecular Diagnosis and Prenatal Counseling of a Chinese Family with Spondyloepiphyseal Dysplasia congenital

2021-05-19

Abstract excerpt

<title>Abstract</title> <p><bold>Aim: </bold>To identify the gene mutation and complete prenatal counseling in a Chinese family with spondyloepiphyseal dysplasia congenital (SEDC). <bold>Materials and Methods:</bold> A Chinese family with SEDC was enrolled. Their detailed clinical features, skeletal radiographic features, and laboratory results were obtained. The peripheral blood samples of the family members wer...

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Literature Corpus work: f140fba4-9299-5b91-8779-f5024bee9774
DOI: 10.21203/rs.3.rs-497606/v1

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