Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Cockayne Syndrome

"Cockayne 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.

Expand or collapse the group MeSH information
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.


Expand or collapse the group publications
This graph shows the total number of publications written about "Cockayne Syndrome" by people in this website by year, and whether "Cockayne Syndrome" was a major or minor topic of these publications.
Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 2008 and 2020 and 2021
To see the data from this visualization as text, click here.