ReviewMolecular vision2010
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Review in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed.
- Recent developments in the management of congenital cataract.Annals of translational medicine · 2020Review
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.Human molecular genetics · 2013Article
- Implication of the miR-184 and miR-204 competitive RNA network in control of mouse secondary cataract.Molecular medicine (Cambridge, Mass.) · 2012Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).
methodsFull ophthalmological evaluation and direct sequencing of TFAP2A.
resultsA 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.
conclusionsThis report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
Indexed as
Identifiers
20461149PMC2866573What OpenQuestion holds
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.