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Article

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

Gene - 10 Oct 2013

Said Mariem Ben, Chouchène Ebtissem, Salem Salma Ben, Daoud Kods, Largueche Leila, Bouassida Walid, Benzina Zeineb, Ayadi Hammadi, Söderkvist Peter, Matri Leila, Hmani-Aifa Mounira

Abstract excerpt

Congenital microphthalmia (CMIC) is a common developmental ocular disorder characterized by a small, and sometimes malformed, eye. Posterior microphthalmia (PM) and nanophthalmia are two rare subtypes of isolated CMIC characterized by extreme hyperopia due to short axial length and elevated lens/eye volume ratio. While nanophthalmia is associated with a reduced size in both anterior and posterior segments, PM...

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Source

Identifiers

PMID: 23820083
DOI: 10.1016/j.gene.2013.06.045

Genes

PRSS56
MFRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.PMID 23820083Read ↗

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