The DOI matches its Crossref record.
CHARGE Association: An Update and Review for the Primary Pediatrician
Abstract
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of ClHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.
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Citations
Cited by
Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peterson, L. E., McPherson, J. D., Gibbs, R. A., White, L. D., Hefner, M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/500273 · Cited by 396
Self-citationSanlaville, D., & Verloes, A. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201778 · Cited by 332
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
Zentner, G. E., Layman, W. S., Martin, D. M., & Scacheri, P. C. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33323 · Cited by 313
Mutation update on the CHD7 gene involved in CHARGE syndrome
Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A., & Hoefsloot, L. H. (2012) · Human Mutation · doi:10.1002/humu.22086 · Cited by 261
Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.004 · Cited by 200
Metadata
- Authors
- Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., Lin, A. E., & Graham, J. M.
- Venue
- Clinical Pediatrics
- Publisher
- SAGE Publications
- Published
- 1998-03
- Volume
- 37
- Issue
- 3
- Pages
- 159-173
- ISSN
- 0009-9228 (ISSN-L)
- 1938-2707
- OpenAlex
- W2154900242
- Cited by
- 456
- References
- 0
- FWCI
- 3.12
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: CHARGE Association: An Update and Review for the Primary Pediatrician. https://app.cochat.ai/papers/10.1177/000992289803700302
- The paper
- Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., Lin, A. E., & Graham, J. M. (1998). CHARGE Association: An Update and Review for the Primary Pediatrician. Clinical Pediatrics. https://doi.org/10.1177/000992289803700302
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