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

BACKGROUND: Spondylocostal 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 thor...

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Detalles Bibliográficos
Autores principales: Bouchoucha, Sami, Chikhaoui, Asma, Najjar, Dorra, Zayoud, Khouloud, Zouari, Mohamed, Nessib, Mohamed Nabil, Kéfi, Rym, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512740/
https://www.ncbi.nlm.nih.gov/pubmed/37744435
http://dx.doi.org/10.3389/fped.2023.1132023

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