Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China
Abstract
Skeletal dysplasias account for nearly 10% of fetal structural malformations detected by ultrasonography. This clinically heterogeneous group of genetic anomaly includes at least 461 genetic skeletal disorders with extreme clinical, phenotypic, and genetic heterogeneities, thus, significantly complicates accurate diagnosis. Researches have used whole exome sequencing (WES) for prenatal molecular diagnoses of skeletal dysplasias, however, data...
Paper Details
Title
Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China
Published Date
Aug 1, 2020
Journal
Volume
507
Pages
187 - 193
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