"Coffin-Lowry 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 rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
| Descriptor ID |
D038921
|
| MeSH Number(s) |
C10.597.606.643.455.249 C16.320.322.500.249 C16.320.400.525.249
|
| Concept/Terms |
Coffin-Lowry Syndrome- Coffin-Lowry Syndrome
- Coffin Lowry Syndrome
- Syndrome, Coffin-Lowry
- Coffin Syndrome
- Syndrome, Coffin
- Mental Retardation with Osteocartilaginous Abnormalities
|
Below are MeSH descriptors whose meaning is more general than "Coffin-Lowry Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Coffin-Lowry Syndrome".
This graph shows the total number of publications written about "Coffin-Lowry Syndrome" by people in this website by year, and whether "Coffin-Lowry Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 1 | 0 | 1 |
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Below are the most recent publications written about "Coffin-Lowry Syndrome" by people in Profiles.
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Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. J Pediatr Orthop. 2007 Jan-Feb; 27(1):85-9.