Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

PURPOSE: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. METHODS: Conventional autozygosity mapping was performed using single nucleotide polymorphism (...

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Detalles Bibliográficos
Autores principales: Panagiotou, Evangelia S., Fernandez-Fuentes, Narcis, Farraj, Layal Abi, McKibbin, Martin, Elçioglu, Nursel H., Jafri, Hussain, Cerman, Eren, Parry, David A., Logan, Clare V., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122475/
https://www.ncbi.nlm.nih.gov/pubmed/35693420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122475/
https://www.ncbi.nlm.nih.gov/pubmed/35693420

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