The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Unusual case of Smith‐Lemli‐Opitz syndrome “type II”
Abstract
We describe a fetus with abnormalities suggestive, but not typical, of severve Smith‐Lemli‐Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even further the wide spectrum of abnormalities of the SLO phenotype, andemphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses. © Wiley‐Liss, Inc.
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Cites
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
Self-citationA newly recognized syndromeof multiple congenital anomalies
Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
Irons, M., Roy Elias, E., Salen, G., Tint, G. S., & Batta, A. (1993) · The Lancet · doi:10.1016/0140-6736(93)90983-n · Cited by 368
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Chen, S., & Parmigiani, G. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.09.1066 · Cited by 1,802
Coffee: Biochemistry and Potential Impact on Health
Ludwig, I. A., Clifford, M. N., Lean, M. E. J., Ashihara, H., & Crozier, A. (2014) · Food Funct. · doi:10.1039/c4fo00042k · Cited by 537
The Smith-Lemli-Opitz syndrome
Kelley, R. I., & Hennekam, R. C. M. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.5.321 · Cited by 480
Robson, M. E., Chappuis, P. O., Satagopan, J., Wong, N., Boyd, J., Goffin, J. R., Hudis, C., Roberge, D., Norton, L., Bégin, L. R., et al. (2003) · Breast Cancer Research · doi:10.1186/bcr658 · Cited by 307
van Oostrom, I., Meijers-Heijboer, H., Lodder, L. N., Duivenvoorden, H. J., van Gool, A. R., Seynaeve, C., van der Meer, C. A., Klijn, J. G. M., van Geel, B. N., Burger, C. W., et al. (2003) · Journal of Clinical Oncology · doi:10.1200/jco.2003.10.100 · Cited by 281
Malone, K. E., Begg, C. B., Haile, R. W., Borg, A., Concannon, P., Tellhed, L., Xue, S., Teraoka, S., Bernstein, L., Capanu, M., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.24.2495 · Cited by 191
Survival and tumor characteristics of German hereditary breast cancer patients
Hamann, U., & Sinn, H.-P. (2000) · Breast Cancer Research and Treatment · doi:10.1023/a:1006350518190 · Cited by 48
Metadata
- Authors
- Seller, M. J., Russell, J., & Tint, G. S.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1995-04-15
- Volume
- 56
- Issue
- 3
- Pages
- 265-268
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2086199722
- Cited by
- 585
- References
- 3
- FWCI
- 19.67
- Type
- journal article
- Language
- en
- Open access
- closed
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