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Article

Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.

European journal of medical genetics - 1 Jul 2023

Bhattad Sagar, Libre Michael, Choi Joseph M, Mohite Rachna Shanbhag, Singh Neha, Markle Janet G

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive genetic disorders characterized by oculocutaneous albinism, bleeding diathesis, and variable presentation of immune deficiency and dysregulation. The pathogenesis of HPS involves mutations in genes responsible for biogenesis and trafficking of lysosome-related organelles, essential for the function of melanosomes, platelet granules,...

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Identifiers

PMID: 37172778
DOI: 10.1016/j.ejmg.2023.104786

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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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