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Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

Rita RodriguesRita QuentalRenato Santos-SilvaLídia CostaSérgio Estrela-Silva
Published in: Ophthalmic genetics (2023)
This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.
Keyphrases
  • case report
  • copy number
  • bioinformatics analysis
  • genome wide
  • gene expression
  • dna methylation
  • psychometric properties