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Difference between revisions of "Xeroderma pigmentosum"
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'''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== | ||
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==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category: Syndromes]] | [[Category: Syndromes]] | ||