A novel mutation in GJA8 causing congenital cataract–microcornea syndrome in a Chinese pedigree

PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DN...

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Detalles Bibliográficos
Autores principales: Hu, Shanshan, Wang, Binbin, Zhou, Zhou, Zhou, Guangkai, Wang, Jing, Ma, Xu, Qi, Yanhua
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927419/
https://www.ncbi.nlm.nih.gov/pubmed/20806042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927419/
https://www.ncbi.nlm.nih.gov/pubmed/20806042

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