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Hermansky-Pudlak syndrome: Mutation update.

Human mutation - 1 Mar 2020

Huizing Marjan, Malicdan May C V, Wang Jennifer A, Pri-Chen Hadass, Hess Richard A, Fischer Roxanne, O'Brien Kevin J, Merideth Melissa A, Gahl William A, Gochuico Bernadette R

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional...

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PMID: 31898847
DOI: 10.1002/humu.23968
PMCID: PMC8175076

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