ReviewJournal of pediatric genetics2016
Genetic Advances in Microphthalmia.
Review in Journal of pediatric genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
16 citing papers in PubMed, 31 citations in OpenAlex.
- Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.PloS one · 2026Article
- FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.Investigative ophthalmology & visual science · 2025Article
- Healthcare, school and daily life experiences of patients with microphthalmia or anophthalmia and their parents.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.The British journal of ophthalmology · 2023Article
- Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.BMC biology · 2023Article
- Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.Phenomics (Cham, Switzerland) · 2022Article
- Identification of missense MAB21L1 variants in microphthalmia and aniridia.Human mutation · 2021Article
- Article
- Observational
- Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression.Annals of translational medicine · 2020Article
- Anophthalmia including next-generation sequencing-based approaches.European journal of human genetics : EJHG · 2020Article
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.Experimental eye research · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- The Molecular Basis of Human Anophthalmia and Microphthalmia.Journal of developmental biology · 2019Review
- Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Molecular genetics & genomic medicine · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital ocular anomalies such as anophthalmia and microphthalmia (AM) are severe craniofacial malformations in human. The etiologies of these ocular globe anomalies are diverse but the genetic origin appears to be a predominant cause. Until recently, genetic diagnosis capability was rather limited in AM patients and only a few genes were available for routine genetic testing. While some issues remain poorly understood, knowledge regarding the molecular basis of AM dramatically improved over the last years with the development of new molecular screening technologies. Thus, the genetic cause is now identifiable in more than 50% of patients with a severe bilateral eye phenotype and in around 30% of all AM patients taken together. Such advances in the knowledge of these genetic bases are important as they improve the quality of care, in terms of diagnosis, prognosis, and genetic counseling delivered to the patients and their families.
Indexed as
Identifiers
What 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.