# Cockayne syndrome

> rare and fatal autosomal recessive neurodegenerative disorder

**Wikidata**: [Q914389](https://www.wikidata.org/wiki/Q914389)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cockayne_syndrome)  
**Source**: https://4ort.xyz/entity/cockayne-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
6. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
7. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
8. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
9. Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function
10. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000049167/MONDO_0016006)
12. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
13. Quora
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)