DeSanctis–Cacchione syndrome
From Infogalactic: the planetary knowledge core
| DeSanctis–Cacchione syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 278800 |
| DiseasesDB | 29880 |
| Patient UK | DeSanctis–Cacchione syndrome |
DeSanctis–Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.[1]
Genetics
In at least some case, the gene lesion involves a mutation in the CSB gene.[2]
It can be associated with ERCC6.[3]
See also
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ http://hmg.oxfordjournals.org/cgi/content/full/9/8/1171?view=long&pmid=10767341
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
<templatestyles src="Asbox/styles.css"></templatestyles>
 |
This dermatology article is a stub. You can help Wikipedia by expanding it. |
