Cargando…
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome
PURPOSE: To determine the genetic origin of disease in four Chinese families with blepharophimosis syndrome. METHODS: Four Han Chinese families with blepharophimosis syndrome were ascertained and patients underwent complete physical and ophthalmic examinations. Blood samples were collected and genom...
Autores principales: | Zhang, Li, Wang, Liming, Han, Ruifang, Guan, Lifang, Fan, Baohong, Liu, Mingmei, Ying, Ming, Peng, Hao, Li, Ningdong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834601/ https://www.ncbi.nlm.nih.gov/pubmed/24265544 |
Ejemplares similares
-
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Xue, Min, et al.
Publicado: (2015) -
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Wang, Juan, et al.
Publicado: (2007) -
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
por: Tan, Hu, et al.
Publicado: (2015) -
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome
por: Jiang, Haiou, et al.
Publicado: (2013) -
Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome
por: Li, Fang, et al.
Publicado: (2021)