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A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report

Shaoguang Lv1, Yuanyuan Wu2, Fang Liu1

  • 1Department of Pediatrics, Bethune International Peace Hospital, Shijiazhuang, China.

Frontiers in Pediatrics
|September 11, 2023
PubMed
Abstract

Keywords:
HES7 genealternative splicing mutationcase reportminigene analysisspondylocostal dysostosis 4 (SCDO4)

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