Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia
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DOI: 10.1097/mcd.0000000000000487
Abstract: Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused… read more here.
Keywords: four patients; recurrent variants; novel recurrent; ocular phenotypes ... See more keywords