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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Globally the Hermansky-Pudlak syndrome is a rare disease. It is more common in two specific locations:

  • Puerto Rico:
    • incidence 1 in 1800 live births
  • an isolated Swiss village

Linkage analysis of the Puerto Rican families have permitted the location of the gene to chromosome 10q23.

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