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Spectrum of anomalies in Fanconi anaemia.
Open accessAbstract
The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia, and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.
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Citations
Cited by
International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity
Auerbach, A., Rogatko, A., & Schroeder-Kurth, T. (1989) · Blood · doi:10.1182/blood.v73.2.391.391 · Cited by 345
Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
Strathdee, C. A., Duncan, A. M. V., & Buchwald, M. (1992) · Nature Genetics · doi:10.1038/ng0692-196 · Cited by 289
Powell, C. M., & Michaelis, R. C. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.2.89 · Cited by 150
In vivo selection of wild‐type hematopoietic stem cells in a murine model of Fanconi anemia
Battaile, K. P., Bateman, R. L., Mortimer, D., Mulcahy, J., Rathbun, R. K., Bagby, G., Fleming, W. H., & Grompe, M. (1999) · Blood · doi:10.1182/blood.v94.6.2151 · Cited by 54
Metadata
- Authors
- Glanz, A., & Fraser, F. C.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1982-12
- Volume
- 19
- Issue
- 6
- Pages
- 412-416
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2002689272
- Cited by
- 192
- References
- 0
- FWCI
- 7.36
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Glanz, A., & Fraser, F. C. (1982). Spectrum of anomalies in Fanconi anaemia. Journal of Medical Genetics. https://doi.org/10.1136/jmg.19.6.412
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