Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

BackgroundSpondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thorac...

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Bibliographic Details
Main Authors: Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Khouloud Zayoud, Mohamed Zouari, Mohamed Nabil Nessib, Rym Kéfi, Houda Yacoub-Youssef
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Pediatrics
Subjects:
whole exome sequencing
rare orthopedic disorders
TPM2
spondylospinal thoracic dysostosis
oligogenic inheritance
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1132023/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1132023/full

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