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Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

BACKGROUND: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. METHODS: Using whole exome sequencing, we identified disease-causing variant...

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Detalles Bibliográficos
Autores principales:	Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Moore, Anthony T., Quinlan, Roy A., Michaelides, Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307513/ https://www.ncbi.nlm.nih.gov/pubmed/34345029 http://dx.doi.org/10.1038/s41433-021-01711-x

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