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

• Main Authors: Sami Bouchoucha (Author), Asma Chikhaoui (Author), Dorra Najjar (Author), Khouloud Zayoud (Author), Mohamed Zouari (Author), Mohamed Nabil Nessib (Author), Rym Kéfi (Author), Houda Yacoub-Youssef (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...