PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding paired domain of PAX6 ar...

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Detalles Bibliográficos
Autores principales: Lima Cunha, Dulce, Owen, Nicholas, Tailor, Vijay, Corton, Marta, Theodorou, Maria, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868363/
https://www.ncbi.nlm.nih.gov/pubmed/33024313
http://dx.doi.org/10.1038/s41431-020-00737-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868363/
https://www.ncbi.nlm.nih.gov/pubmed/33024313
http://dx.doi.org/10.1038/s41431-020-00737-1

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