Associated Papers
Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.
Kim M et al.
Korean Journal of Ophthalmology : Kjo, 2024
Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
Wu W et al.
The British Journal of Ophthalmology, 2023
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
Said MB et al.
Gene, 2013
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
Nowilaty SR et al.
American Journal of Ophthalmology, 2013
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A et al.
American Journal of Human Genetics, 2011
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr A et al.
Molecular Vision, 2011
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