Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome

Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak-lik...

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Detalles Bibliográficos
Autores principales: Lin, Ying, Gao, Hongbin, Ai, Siming, Eswarakumar, Jacob V.P., Li, Tao, Liu, Bingqian, Jiang, Hongye, Liu, Yuhua, Liu, Xialin, Li, Yonghao, Ni, Yao, Chen, Jiangna, Lin, Zhuoling, Liang, Xiaoling, Jin, Chenjin, Huang, Xinhua, Lu, Lin, Liu, Yizhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991745/
https://www.ncbi.nlm.nih.gov/pubmed/27430617
http://dx.doi.org/10.3892/mmr.2016.5497

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