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Article

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Human genetics - 1 Jul 2003

Anderson Paul D, Huizing Marjan, Claassen David A, White James, Gahl William A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder of oculocutaneous albinism and bleeding attributable to storage-pool-deficient platelets. Although at least 14 mouse models of HPS exist, the human disorders that comprise HPS, i.e., HPS-1, HPS-2, HPS-3, and HPS-4, are recognized to result from mutations in four genes, viz., HPS1, ADTB3A, HPS3, and HPS4, respectively. To characterize further the...

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Source

Identifiers

PMID: 12664304
DOI: 10.1007/s00439-003-0933-5

Genes

HPS4
HPS1
HPS3

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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