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Article

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

Molecular vision - 1 Jan 2011

Orr Andrew, Dubé Marie-Pierre, Zenteno Juan C, Jiang Haiyan, Asselin Geraldine, Evans Susan C, Caqueret Aurore, Lakosha Hesham, Letourneau Louis, Marcadier Julien, Matsuoka Makoto, Macgillivray Christine, Nightingale Mathew, Papillon-Cavanagh Simon, Perry Scott, Provost Sylvie, Ludman Mark, Guernsey Duane L, Samuels Mark E

Abstract excerpt

PURPOSE: Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected individuals are abnormally small. Patients suffer from severe hyperopia as a result of their markedly reduced axial lengths, but otherwise are capable of seeing well unlike other more general forms of microphth...

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Source

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Identifiers

PMID: 21850159
PMCID: PMC3137557

Genes

PRSS56
MFRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21850159-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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