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Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.
McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG. McElvaney OJ, et al. Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25. Thorax. 2018. PMID: 29941477 Free PMC article.
Of interest, this is the only described HPS type 1 patient with two different (compound heterozygote) splice site variants in HPS1 In addition to detailing a novel genetic result and outlining the progressive clinical course of disease in this case, we discuss the manageme …
Of interest, this is the only described HPS type 1 patient with two different (compound heterozygote) splice site variants in HPS1 In additi …