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Article

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

The journal of gene medicine - 1 Jan 2024

Akbar Warda, Ullah Asmat, Haider Nighat, Suleman Sufyan, Khan Fati Ullah, Shah Abid Ali, Sikandar Muhammad Atif, Basit Sulman, Ahmad Wasim

Abstract excerpt

BACKGROUND: Anophthalmia and microphthalmia are severe developmental ocular disorders that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found in syndromic as well as non-syndromic forms. It is genetically caused by chromosomal aberrations, copy number variations and single gene mutations, along with non-genetic factors such as viral infections, deficiency of vitamin A and...

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Source

Identifiers

PMID: 37758467
DOI: 10.1002/jgm.3601

Genes

AP4M1
FOXE3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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