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Article

[The genetic background for the eye malformations anophthalmia and microphthalmia].

Ugeskrift for laeger - 12 Mar 2012

Roos Laura Sønderberg, Grønskov Karen, Jensen Hanne, Tümer Zeynep

Abstract excerpt

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is...

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PMID: 22409892

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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