Matches in SemOpenAlex for { <https://semopenalex.org/work/W3129642478> ?p ?o ?g. }
- W3129642478 endingPage "295" @default.
- W3129642478 startingPage "295" @default.
- W3129642478 abstract "Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies." @default.
- W3129642478 created "2021-03-01" @default.
- W3129642478 creator A5034047313 @default.
- W3129642478 creator A5038663979 @default.
- W3129642478 creator A5041009973 @default.
- W3129642478 creator A5047730377 @default.
- W3129642478 creator A5070596763 @default.
- W3129642478 creator A5081838748 @default.
- W3129642478 date "2021-02-20" @default.
- W3129642478 modified "2023-09-27" @default.
- W3129642478 title "Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins" @default.
- W3129642478 cites W1531823089 @default.
- W3129642478 cites W1972171526 @default.
- W3129642478 cites W1976538128 @default.
- W3129642478 cites W1978215685 @default.
- W3129642478 cites W1979423929 @default.
- W3129642478 cites W1979776927 @default.
- W3129642478 cites W1991485455 @default.
- W3129642478 cites W1996516839 @default.
- W3129642478 cites W1997104362 @default.
- W3129642478 cites W2014665275 @default.
- W3129642478 cites W2019034413 @default.
- W3129642478 cites W2024525720 @default.
- W3129642478 cites W2026743476 @default.
- W3129642478 cites W2030861640 @default.
- W3129642478 cites W2031382307 @default.
- W3129642478 cites W2037936898 @default.
- W3129642478 cites W2039690172 @default.
- W3129642478 cites W2040571017 @default.
- W3129642478 cites W2041142664 @default.
- W3129642478 cites W2042523155 @default.
- W3129642478 cites W2044036970 @default.
- W3129642478 cites W2045791858 @default.
- W3129642478 cites W2051978340 @default.
- W3129642478 cites W2056312311 @default.
- W3129642478 cites W2064219252 @default.
- W3129642478 cites W2065079743 @default.
- W3129642478 cites W2069471160 @default.
- W3129642478 cites W2072428636 @default.
- W3129642478 cites W2073170523 @default.
- W3129642478 cites W2073237146 @default.
- W3129642478 cites W2078518665 @default.
- W3129642478 cites W2078561963 @default.
- W3129642478 cites W2078673836 @default.
- W3129642478 cites W2082591423 @default.
- W3129642478 cites W2083450288 @default.
- W3129642478 cites W2088589215 @default.
- W3129642478 cites W2093116100 @default.
- W3129642478 cites W2093992377 @default.
- W3129642478 cites W2100634501 @default.
- W3129642478 cites W2101171382 @default.
- W3129642478 cites W2114276131 @default.
- W3129642478 cites W2121909403 @default.
- W3129642478 cites W2124462990 @default.
- W3129642478 cites W2125736680 @default.
- W3129642478 cites W2134371533 @default.
- W3129642478 cites W2137898238 @default.
- W3129642478 cites W2142655405 @default.
- W3129642478 cites W2146362530 @default.
- W3129642478 cites W2150600194 @default.
- W3129642478 cites W2150886023 @default.
- W3129642478 cites W2167428709 @default.
- W3129642478 cites W2172188023 @default.
- W3129642478 cites W2191438965 @default.
- W3129642478 cites W2252831582 @default.
- W3129642478 cites W2275939505 @default.
- W3129642478 cites W2470001658 @default.
- W3129642478 cites W2620536393 @default.
- W3129642478 cites W2790737592 @default.
- W3129642478 cites W2941697096 @default.
- W3129642478 cites W2943355970 @default.
- W3129642478 cites W2995003903 @default.
- W3129642478 cites W3014778983 @default.
- W3129642478 cites W3027417568 @default.
- W3129642478 cites W4251391836 @default.
- W3129642478 cites W98249881 @default.
- W3129642478 doi "https://doi.org/10.3390/genes12020295" @default.
- W3129642478 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7924063" @default.
- W3129642478 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33672602" @default.
- W3129642478 hasPublicationYear "2021" @default.
- W3129642478 type Work @default.
- W3129642478 sameAs 3129642478 @default.
- W3129642478 citedByCount "3" @default.
- W3129642478 countsByYear W31296424782021 @default.
- W3129642478 countsByYear W31296424782022 @default.
- W3129642478 crossrefType "journal-article" @default.
- W3129642478 hasAuthorship W3129642478A5034047313 @default.
- W3129642478 hasAuthorship W3129642478A5038663979 @default.
- W3129642478 hasAuthorship W3129642478A5041009973 @default.
- W3129642478 hasAuthorship W3129642478A5047730377 @default.
- W3129642478 hasAuthorship W3129642478A5070596763 @default.
- W3129642478 hasAuthorship W3129642478A5081838748 @default.
- W3129642478 hasBestOaLocation W31296424781 @default.
- W3129642478 hasConcept C104317684 @default.
- W3129642478 hasConcept C134935766 @default.
- W3129642478 hasConcept C141071460 @default.
- W3129642478 hasConcept C16005928 @default.
- W3129642478 hasConcept C2776395126 @default.