WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
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DOI: 10.1002/humu.23128
Abstract: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene,… read more here.
Keywords: spectrum patient; wrn mutation; mutation update; update mutation ... See more keywords
A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2018.3354
Abstract: 553 including penicillin. Several studies have reported penicillin resistance rates from 12 to 27% [1, 7]. In our study, eight patients (34.8%) showed resistance to some antibiotics, and penicillin was the antibiotic for which more… read more here.
Keywords: wrn mutation; novel wrn; resistance; identified patient ... See more keywords