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2625 pages added, reviewed or updated during the last month (last updated: 15/4/2021)

2625 pages added, reviewed or updated during the last month (last updated: 15/4/2021)


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Hermansky-Pudlak syndrome

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This is a rare autosomal recessive disorder characterised by:

  • albinism
  • platelets defects and a bleeding diathesis
  • pulmonary fibrosis

There is a defect in subcellular membranes, similar to that seen in the Chediak-Higashi syndrome.

Death occurs in the third to sixth decades usually from pulmonary fibrosis.

Last reviewed 01/2018

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