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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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2018
Teme:
Brief Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175480/
https://ncbi.nlm.nih.gov/pubmed/30040876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23598
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