Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
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DOI: 10.1016/j.ejmg.2020.103940
Abstract: Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large cohort of 434 probands referred… read more here.
Keywords: homeobox domains; pax6; cohort; novel variants ... See more keywords