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zadetkov: 123
121.
  • Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1
    Meurer, Michael; Viehweg, Antje; Stein, Annette ...
    Dissertation

    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 ...
Preverite dostopnost
122.
  • Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation
    Lee-Kirsch, Min Ae; Schmidt, Franziska; Tüngler, Victoria ...
    Dissertation
    Odprti dostop

    Aicardi-Goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and ...
Celotno besedilo
123.
  • Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1
    Meurer, Michael; Viehweg, Antje; Stein, Annette ...
    Dissertation

    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 ...
Preverite dostopnost

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