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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...

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Detalles Bibliográficos
Autores principales: Whitman, Mary C., Gilette, Nicole M., Bell, Jessica L., Kim, Seoyoung, Tischfield, Max, Engle, Elizabeth C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
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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