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Article

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2012

Aldahmesh Mohammed A, Mohammed Jawahir Y, Al-Hazzaa Selwa, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Microphthalmia is a condition in which eyes are small in size, often associated with coloboma, as a result of aberrant eye development. Isolated microphthalmia is a model disease for studying early development of the human eye, and mutations in several key genes related to eye development have been linked to this phenotype. METHODS: In our search for novel genes that cause autosomal recessive...

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PMID: 22766609
DOI: 10.1038/gim.2012.71

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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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