A novel variant in PAX6 as the cause of aniridia in a Chinese family
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DOI: 10.1186/s12886-021-01848-z
Abstract: Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.… read more here.
Keywords: cause aniridia; pax6; pax6 cause; family ... See more keywords