Xeroderma pigmentosum
Jump to navigation
Jump to search
Xeroderma pigmentosum, abbreviated XP, is an autosomal recessive disorder due to defective DNA repair.[1]
XP is a set of disorders that involves different genes.[2] The two most common genes implicated are XPA and XPC.[2][3]
General
High predisposition to cancer with sunlight.[2]
Associations
- Basal cell carcinoma.
- Others.
See also
References
- ↑ Ramkumar, HL.; Brooks, BP.; Cao, X.; Tamura, D.; Digiovanna, JJ.; Kraemer, KH.; Chan, CC.. "Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.". Surv Ophthalmol 56 (4): 348-61. doi:10.1016/j.survophthal.2011.03.001. PMID 21684361.
- ↑ 2.0 2.1 2.2 Online 'Mendelian Inheritance in Man' (OMIM) 278700
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613208