The DOI matches its Crossref record; 108 of the 108 references it cites were found in a registry or an index.
Microtia: Epidemiology and genetics
Open accessAbstract
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude. © 2011 Wiley Periodicals, Inc.
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Cited by
Ronde, E. M., Esposito, M., Lin, Y., van Etten-Jamaludin, F. S., Bulstrode, N. W., & Breugem, C. C. (2021) · Journal of Plastic, Reconstructive & Aesthetic Surgery · doi:10.1016/j.bjps.2021.08.004 · Cited by 38
Bhatti, S. L., Daly, L. T., Mejia, M., & Perlyn, C. (2021) · Pediatrics In Review · doi:10.1542/pir.2019-0167 · Cited by 16
Metadata
- Authors
- Luquetti, D. V., Heike, C. L., Hing, A. V., Cunningham, M. L., & Cox, T. C.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2011-11-21
- Volume
- 158A
- Issue
- 1
- Pages
- 124-139
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1982646609
- Cited by
- 457
- References
- 108
- FWCI
- 9.94
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Luquetti, D. V., Heike, C. L., Hing, A. V., Cunningham, M. L., & Cox, T. C. (2012). Microtia: Epidemiology and genetics. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.34352
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