Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14.
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DOI: 10.2174/1566524019666190730095630
Abstract: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical. Despite the strong evidence of genetic contribution in KC, the etiology of KC is not understood in… read more here.
Keywords: gene galnt14; frameshift variant; homozygous frameshift; gene ... See more keywords