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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2018
Gaiak:
Brief Reports
Sarrera elektronikoa: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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