Difference between revisions of "Xeroderma pigmentosum"
Jump to navigation
Jump to search
(create) |
m (expand) |
||
| (One intermediate revision by the same user not shown) | |||
| Line 1: | Line 1: | ||
'''Xeroderma pigmentosum''' is an autosomal recessive disorder due to defective DNA repair.<ref name=pmid21684361>{{Cite journal | last1 = Ramkumar | first1 = HL. | last2 = Brooks | first2 = BP. | last3 = Cao | first3 = X. | last4 = Tamura | first4 = D. | last5 = Digiovanna | first5 = JJ. | last6 = Kraemer | first6 = KH. | last7 = Chan | first7 = CC. | title = Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. | journal = Surv Ophthalmol | volume = 56 | issue = 4 | pages = 348-61 | month = | year = | doi = 10.1016/j.survophthal.2011.03.001 | PMID = 21684361 }}</ref> | '''Xeroderma pigmentosum''', abbreviated '''XP''', is an autosomal recessive disorder due to defective [[DNA repair genes|DNA repair]].<ref name=pmid21684361>{{Cite journal | last1 = Ramkumar | first1 = HL. | last2 = Brooks | first2 = BP. | last3 = Cao | first3 = X. | last4 = Tamura | first4 = D. | last5 = Digiovanna | first5 = JJ. | last6 = Kraemer | first6 = KH. | last7 = Chan | first7 = CC. | title = Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. | journal = Surv Ophthalmol | volume = 56 | issue = 4 | pages = 348-61 | month = | year = | doi = 10.1016/j.survophthal.2011.03.001 | PMID = 21684361 }}</ref> | ||
XP is a set of disorders that involves different genes.<ref name=omim278700>{{OMIM|278700}}</ref> The two most common genes implicated are XPA and XPC.<ref name=omim278700>{{OMIM|278700}}</ref><ref name=omim613208>{{OMIM|613208}}</ref> | |||
==General== | |||
High predisposition to cancer with sunlight.<ref name=omim278700>{{OMIM|278700}}</ref> | |||
==Associations== | ==Associations== | ||
*[[Basal cell carcinoma]]. | *[[Basal cell carcinoma]]. | ||
*Others. | *Others. | ||
==See also== | |||
*[[Molecular pathology]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category: Syndromes]] | [[Category: Syndromes]] | ||
Latest revision as of 12:46, 4 May 2012
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