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Article

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

American journal of human genetics - 1 Jan 2006

Morgan Neil V, Pasha Shanaz, Johnson Colin A, Ainsworth John R, Eady Robin A J, Dawood Ban, McKeown Carole, Trembath Richard C, Wilde Jonathan, Watson Steve P, Maher Eamonn R

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Skin biopsy demonstrated abnormal aggregates of melanosomes within basal epidermal keratinocytes. A...

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Identifiers

PMID: 16385460
DOI: 10.1086/499338
PMCID: PMC1380215

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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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