[Genetic analysis revealed the patient to be compound heterozygous for 2 variations of the perforin gene, c.1620 A>G and c.562C>G. This case featuring a rare initial manifestation of HLH that has not been previously reported, points to the necessity of considering this disease when symptoms similar to superior vena cava syndrome are encountered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE