Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Saethre‐Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss‐of‐function variants within the coding region. To determine whether non‐codi...

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Detalles Bibliográficos
Autores principales: Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480/
https://www.ncbi.nlm.nih.gov/pubmed/30040876
http://dx.doi.org/10.1002/humu.23598

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480/
https://www.ncbi.nlm.nih.gov/pubmed/30040876
http://dx.doi.org/10.1002/humu.23598

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