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Bardet-Biedl Syndrome and Related Disorders
Abstract
The Bardet-Beidl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity.
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Citations
Cited by
The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome
Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G., Heath, O., McManamon, P. J., O'Leary, E., & Pryse-Phillips, W. (1989) · New England Journal of Medicine · doi:10.1056/nejm198910123211503 · Cited by 555
Buck, T., & Wijnholds, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124197 · Cited by 92
Haider, N. B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E. M., & Sheffield, V. C. (1999) · Gene · doi:10.1016/s0378-1119(99)00395-9 · Cited by 15
Metadata
- Authors
- Schachat, A. P., & Maumenee, I. H.
- Venue
- Archives of Ophthalmology
- Publisher
- American Medical Association (AMA)
- Published
- 1982-02-01
- Volume
- 100
- Issue
- 2
- Pages
- 285-288
- ISSN
- 0003-9950 (ISSN-L)
- OpenAlex
- W2079324311
- Cited by
- 186
- References
- 0
- FWCI
- 1.67
- Type
- journal article
- Language
- en
- Open access
- closed
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
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- CoChat. (2026). Citation check: Bardet-Biedl Syndrome and Related Disorders. https://app.cochat.ai/papers/10.1001/archopht.1982.01030030287011
- The paper
- Schachat, A. P., & Maumenee, I. H. (1982). Bardet-Biedl Syndrome and Related Disorders. Archives of Ophthalmology. https://doi.org/10.1001/archopht.1982.01030030287011
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
