Rubinstein-Taybi Syndrome
"Rubinstein-Taybi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
| Descriptor ID |
D012415
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| MeSH Number(s) |
C05.116.099.370.797 C05.660.207.850 C10.597.606.643.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790
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| Concept/Terms |
Rubinstein-Taybi Syndrome- Rubinstein-Taybi Syndrome
- Rubinstein Taybi Syndrome
- Syndrome, Rubinstein-Taybi
- Rubinstein Syndrome
- Syndrome, Rubinstein
- Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
- Broad Thumb-Hallux Syndrome
- Broad Thumb Hallux Syndrome
- Broad Thumb-Hallux Syndromes
- Syndrome, Broad Thumb-Hallux
- Syndromes, Broad Thumb-Hallux
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Below are MeSH descriptors whose meaning is more general than "Rubinstein-Taybi Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Rubinstein-Taybi Syndrome".
This graph shows the total number of publications written about "Rubinstein-Taybi Syndrome" by people in this website by year, and whether "Rubinstein-Taybi Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 3 | 1 | 4 |
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Below are the most recent publications written about "Rubinstein-Taybi Syndrome" by people in Profiles.
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A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. Pediatr Allergy Immunol. 2018 11; 29(7):776-781.
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Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach. Am J Med Genet B Neuropsychiatr Genet. 2018 06; 177(4):406-415.
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Perthes disease: A new finding in Floating-Harbor syndrome. Am J Med Genet A. 2018 03; 176(3):703-706.
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Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish. Biochim Biophys Acta Mol Basis Dis. 2018 Apr; 1864(4 Pt A):1203-1215.