A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family

PURPOSE: Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS: A detailed family history and clinical data from pat...

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Detalles Bibliográficos
Autores principales: Jin, Chongfei, Wang, Qiwei, Li, Jinyu, Zhu, Yanan, Shentu, Xingchao, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291521/
https://www.ncbi.nlm.nih.gov/pubmed/22393272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291521/
https://www.ncbi.nlm.nih.gov/pubmed/22393272

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