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Article

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

American journal of medical genetics. Part A - 15 Aug 2004

Gallardo M E, Rodríguez De Córdoba S, Schneider A S, Dwyer M A, Ayuso C, Bovolenta P

Abstract excerpt

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Topics

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Share to Anophthalmos
Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 14
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microphthalmos

Share to Mutation, Missense

Share to Sequence Homology, Amino Acid

Share to Trans-Activators

Source

Identifiers

PMID: 15266624
DOI: 10.1002/ajmg.a.30126

Genes

SIX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.PMID 15266624Read ↗

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Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.Semantic proximity Read ↗

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.Semantic proximity Read ↗

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.Semantic proximity Read ↗

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Six family genes--structure and function as transcription factors and their roles in development.Semantic proximity Read ↗

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.Semantic proximity Read ↗

Homozygous truncation of SIX6 causes complex microphthalmia in humans.Semantic proximity Read ↗

Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.Semantic proximity Read ↗

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.Semantic proximity Read ↗

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.Semantic proximity Read ↗

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