Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
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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