Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001681
Abstract: We have experienced 3 consecutive cases of familial hemophagocytic lymphohistiocytosis (FHL). All affected infants had mutations in exon 3 of the perforin gene. The first had a homozygous mutation, c.1168C>T (p.R390*), caused by maternal uniparental… read more here.
Keywords: familial hemophagocytic; maternal uniparental; hemophagocytic lymphohistiocytosis; cases familial ... See more keywords
Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Dermatology"
DOI: 10.1111/ijd.16246
Abstract: confocal optical coherence tomography for ultrahigh-resolution vertical and horizontal section imaging of human skin in vivo. Biomed Opt Express. 2020;11:1327–35. 3 Gambardella A, Licata G, Calabrese G, de Rosa A, Alfano R, Argenziano G. Dual… read more here.
Keywords: cases familial; glomuvenous malformation; malformation description; two cases ... See more keywords