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The Global ETD Search service is a free service for researchers
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Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
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Showing 1 to 2 of 2 (0.061 seconds)Spelling suggestions: "subject:"chilblain lupus erythematosus"" "subject:"chilblain lupus erythematous""
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Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1Günther, Claudia, Meurer, Michael, Stein, Annette, Viehweg, Antje, Lee-Kirsch, Min-Ae 28 February 2014 (has links) (PDF)
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1Günther, Claudia, Meurer, Michael, Stein, Annette, Viehweg, Antje, Lee-Kirsch, Min-Ae January 2009 (has links)
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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