Novel Splice Variant in the <i>HES7</i> Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review

Novel Splice Variant in the <i>HES7</i> Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review

Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including <i>DLL3</i&g...

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Main Authors: Ha Minh Nguyen, Nguyen Thi Kim Lien, Thinh Huy Tran, Ngoc Lan Nguyen, Suong Bang Thi Nguyen, Thi Hong Chau Bui, Nguyen Van Tung, Le Tat Thanh, Nguyen Thi Xuan, Van Khanh Tran, Nguyen Huy Hoang
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Diagnostics
Subjects:
<i>HES7</i> gene
novel splicing variant
spondylocostal dysostosis
Vietnamese patients
whole-exome sequencing
Online Access:https://www.mdpi.com/2075-4418/15/13/1587
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