Xeroderma pigmentosum - Revision history

Michael: expand

2012-05-04T12:46:42Z

expand

← Older revision		Revision as of 12:46, 4 May 2012
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==
Line 9:		Line 14:

	==References==		==References==
	{{Reflist\|1}}		{{Reflist\|2}}

	[[Category: Syndromes]]		[[Category: Syndromes]]

Michael at 12:41, 4 May 2012

2012-05-04T12:41:14Z

← Older revision		Revision as of 12:41, 4 May 2012
Line 4:		Line 4:
	*[[Basal cell carcinoma]].		*[[Basal cell carcinoma]].
	*Others.		*Others.

			==See also==
			*[[Molecular pathology]].

	==References==		==References==

Michael: create

2011-09-05T05:38:37Z

create

New page

'''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>

==Associations==
*[[Basal cell carcinoma]].
*Others.

==References==
{{Reflist|1}}

[[Category: Syndromes]]