Nicholas Owen
Nicholas Owen
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Automatic
mosaicism
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 are usually associated with non-aniridia phenotypes like microphthalmia, coloboma or isolated foveal hypoplasia. In this study, we report …
Nicholas Owen
,
D Lima Cunha
,
V Taylor
,
M Corton
,
M Theodorou
,
M Moosajee
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