ReviewEuropean journal of medical genetics2014
The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.
Review in European journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of congenital external ear anomalies and their associated factors.Frontiers in pediatrics · 2025Pooled it
- Functional and Genetic Analyses Unveil the Implication ofJournal of developmental biology · 2026Article
- Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Article
- Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation.Development (Cambridge, England) · 2025Article
- Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.Frontiers in medicine · 2025Article
- Decreased Tiam1-mediated Rac1 activation is responsible for impaired directional persistence of chondrocyte migration in microtia.Journal of cellular and molecular medicine · 2024Article
- A Consolidated Understanding of the Contribution of Redox Dysregulation in the Development of Hearing Impairment.Antioxidants (Basel, Switzerland) · 2024Review
- Article
- Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype-Phenotype Correlation.Global medical genetics · 2023Article
- Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.Molecular genetics & genomic medicine · 2023Article
- Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.Frontiers of medicine · 2023Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Evaluation of loci to predict ear morphology using two SNaPshot assays.Forensic science, medicine, and pathology · 2023Article
- The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Damaging variants in FOXI3 cause microtia and craniofacial microsomia.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.Journal of applied genetics · 2022Article
- Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia: A case report.World journal of clinical cases · 2022Article
- Predicting the Risk of Microtia From Prenatal Factors: A Hospital-Based Case-Control Study.Frontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia.
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