ArticleClinical genetics2008
Confirmation of RAX gene involvement in human anophthalmia.
Article in Clinical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
- A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review.Medicine · 2026Review
- The rx3 Gene Contributes to the Evolution of Eye Loss in the Cavefish Astyanax mexicanus.Evolution & development · 2025Article
- Novel homozygous mutation in the humanCase reports in perinatal medicine · 2024Article
- Article
- The rax homeobox gene is mutated in the eyeless axolotl, Ambystoma mexicanum.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Transcriptome analysis of the zebrafishFASEB bioAdvances · 2020Article
- Origin and evolution of the Rax homeobox gene by comprehensive evolutionary analysis.FEBS open bio · 2020Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.The Journal of clinical endocrinology and metabolism · 2019Article
- REforge Associates Transcription Factor Binding Site Divergence in Regulatory Elements with Phenotypic Differences between Species.Molecular biology and evolution · 2018Article
- The role of the Rx homeobox gene in retinal progenitor proliferation and cell fate specification.Mechanisms of development · 2018Article
- Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Scientific reports · 2017Article
- Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.European journal of human genetics : EJHG · 2017Article
- Article
- Keeping an eye on SOXC proteins.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
- Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Molecular genetics & genomic medicine · 2013Article
- RAX and anophthalmia in humans: evidence of brain anomalies.Molecular vision · 2012Article
- Eye development genes and known syndromes.Molecular genetics and metabolism · 2011Review
- VSX2 mutations in autosomal recessive microphthalmia.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia. Previously, RAX recessive mutations were implicated in a single patient with right anophthalmia, left microphthalmia and sclerocornea. In this study, we report the findings of novel compound heterozygous RAX mutations in a child with bilateral anophthalmia. Both mutations are located in exon 3. c.664delT is a frameshifting deletion predicted to introduce a premature stop codon (p.Ser222ArgfsX62), and c.909C>G is a nonsense mutation with similar consequences (p.Tyr303X). This is the second report of a patient with anophthalmia caused by RAX mutations. These findings confirm that RAX plays a major role in the early stages of eye development and is involved in human anophthalmia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.