The genetics of anophthalmia and microphthalmia.

doi:10.1097/ICU.0b013e328349b004

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Article

The genetics of anophthalmia and microphthalmia.

Current opinion in ophthalmology - 1 Sept 2011

Bardakjian Tanya M, Schneider Adele

Abstract excerpt

PURPOSE OF REVIEW: To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. RECENT FINDINGS: The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition,...

Topics

Anophthalmos
DNA Mutational Analysis
Eye Proteins
Female
Forkhead Transcription Factors
Homeodomain Proteins
Humans
Microphthalmos
Mutation
Otx Transcription Factors
PAX6 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paired Box Transcription Factors

Pregnancy

Repressor Proteins

SOXB1 Transcription Factors

Transcription Factors

Transforming Growth Factor beta

Source

Open in PubMed

Identifiers

PMID: 21825993
DOI: 10.1097/ICU.0b013e328349b004

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