PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
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DOI: 10.1038/s41431-020-00737-1
Abstract: 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… read more here.
Keywords: pax6; mosaicism; evidence; isolated foveal ... See more keywords