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TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse
Heterozygous loss of function mutations in TWIST1 cause Saethre-Chotzen syndrome, which is characterized by craniosynostosis, facial asymmetry, ptosis, strabismus, and distinctive ear appearance. Individuals with syndromic craniosynostosis have high rates of strabismus and ptosis, but the underlying...
Autores principales: | Whitman, Mary C., Gilette, Nicole M., Bell, Jessica L., Kim, Seoyoung, Tischfield, Max, Engle, Elizabeth C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9765759/ https://www.ncbi.nlm.nih.gov/pubmed/35944701 http://dx.doi.org/10.1016/j.ydbio.2022.07.010 |
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