Article

Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disorders

2023-10-31

Abstract excerpt

<h4>Objective: </h4> This study aimed to evaluate the enhancement of whole-exome sequencing technology for the detection of fetal skeletal dysplasias (SDs) in pregnant women with suspected fetal skeletal system abnormalities and explore its potential for genetic mapping. Methods Between February 2021 and January 2023, we performed whole-exome sequencing on 269 pregnant women with prenatal ultrasound indications o...

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Literature Corpus work: cbe06dba-2919-57b7-946c-4cffb0a1a21e
DOI: 10.21203/rs.3.rs-3507098/v1

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