GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained...

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Bibliographic Details
Main Authors: Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee
Format: Article
Language:English
Published: Yeungnam University College of Medicine, Yeungnam University Institute Medical Science 2025-01-01
Series:Journal of Yeungnam Medical Science
Subjects:
cervical vertebrae
radioulnar synostosis
spondylocarpotarsal synostosis
Online Access:http://www.e-jyms.org/upload/pdf/jyms-2024-01137.pdf
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