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Article

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Cold Spring Harbor molecular case studies - 1 Oct 2021

Lansdon Lisa A, Chen Dong, Rush Eric T, Engleman Kendra, Zhang Lei, Saunders Carol J, Oroszi Gabor

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies showing absent dense granules, or the identification of a pathogenic genotype in one of 11 associated genes, including HPS1 We report a 2-wk-old male...

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Identifiers

PMID: 34362826
DOI: 10.1101/mcs.a006110
PMCID: PMC8559624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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