Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants localize in the coding region of the gene, tw...

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Detalles Bibliográficos
Autores principales: Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M., Twigg, Stephen R. F., Calpena, Eduardo, Carceller-Benito, Fernando E., Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845400/
https://www.ncbi.nlm.nih.gov/pubmed/36685936
http://dx.doi.org/10.3389/fgene.2022.1089417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845400/
https://www.ncbi.nlm.nih.gov/pubmed/36685936
http://dx.doi.org/10.3389/fgene.2022.1089417

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