Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome

PURPOSE: The purpose of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in three Chinese patients with Crouzon syndrome and to characterize the related clinical features. METHODS: A single family underwent complete ophthalmic examinations, and three patients were d...

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Detalles Bibliográficos
Autores principales: Lin, Ying, Ai, Siming, Chen, Chuan, Liu, Xialin, Luo, Lixia, Ye, Shaobi, Liang, Xuanwei, Zhu, Yi, Yang, Huasheng, Liu, Yizhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365130/
https://www.ncbi.nlm.nih.gov/pubmed/22665975

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