The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Broad Thumbs and Toes and Facial Abnormalities: A Possible Mental Retardation Syndrome
Abstract
Although a large number of diseases, conditions, and syndromes associated with mental retardation have been described, it has been the discouraging experience of physicians dealing with retarded children that relatively few cases may be specifically classified or diagnosed despite intensive evaluations. Many of the children manifest facial peculiarities along with other physical findings and often resemble neither their parents nor their siblings. The clinician frequently has the feeling that the child should fit into some syndrome; however, each case usually presents an isolated and unique group of findings not resembling the picture seen in other retarded children who are evaluated. It was a rather unusual and exciting experience to find two unrelated children who seemed to resemble each other closely enough to make one wonder if they might not have the same syndrome. After studying these two patients with their array of similar clinical findings, their reports and photographs were
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Cites
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Chromosome preparations of leukocytes cultured from human peripheral blood
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Orodigitofacial dysostosis—a new syndrome
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CBP/p300 in cell growth, transformation, and development
Goodman, R. H., & Smolik, S. (2000) · Genes & Development · doi:10.1101/gad.14.13.1553 · Cited by 1,778
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
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CBP Histone Acetyltransferase Activity Is a Critical Component of Memory Consolidation
Korzus, E., Rosenfeld, M. G., & Mayford, M. (2004) · Neuron · doi:10.1016/j.neuron.2004.06.002 · Cited by 823
Borrow, J., Stanton, V. P., Andresen, J. M., Becher, R., Behm, F. G., Chaganti, R. S. K., Civin, C. I., Disteche, C., Dubé, I., Frischauf, A. M., et al. (1996) · Nature Genetics · doi:10.1038/ng0996-33 · Cited by 771
Dendritic Anomalies in Disorders Associated with Mental Retardation
Kaufmann, W. E. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.981 · Cited by 731
Metadata
- Authors
- RUBINSTEIN, J. H.
- Venue
- American Journal of Diseases of Children
- Publisher
- American Medical Association (AMA)
- Published
- 1963-06-01
- Volume
- 105
- Issue
- 6
- Pages
- 588
- ISSN
- 0002-922X (ISSN-L)
- OpenAlex
- W2003063655
- Cited by
- 512
- References
- 10
- FWCI
- 8.46
- Type
- journal article
- Language
- en
- Open access
- closed
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- RUBINSTEIN, J. H. (1963). Broad Thumbs and Toes and Facial Abnormalities: A Possible Mental Retardation Syndrome. American Journal of Diseases of Children. https://doi.org/10.1001/archpedi.1963.02080040590010
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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.
