Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Q
PROVIDER: S-EPMC7607196 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Zhang Qin Q Liu Minjuan M Liu Yinghua Y Tang Hui H Wang Ting T Li Hong H Xiang Jingjing J
The Journal of international medical research 20190926 2
<h4>Objective</h4>To confirm diagnosis and explore the genetic aetiology in a Chinese patient suspected to have Cockayne syndrome (CS).<h4>Methods</h4>The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencing. The foetus of the patient's mother underwent prenatal diagnostic Sanger sequencing using amniotic fluid obtained at 19 weeks' gestation.<h4>Results</h4>Clinical examination of the pati ...[more]