Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity
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DOI: 10.1136/bjophthalmol-2021-320909
Abstract: Background/aims Nanophthalmos is a rare developmental, bilateral, sporadic or hereditary form of microphthalmos. In this study, the heterozygous variants c.781G>A and c.1066dup of the PRSS56 gene were identified in two patients with nanophthalmos. This study… read more here.
Keywords: endopeptidase activity; serine type; type endopeptidase; 781g 1066dup ... See more keywords