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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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2018
Onderwerpen:
Brief Reports
Online toegang: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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