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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Kessel LineBirgit KjerUlrikke LeiMorten DunoKaren Grønskov
Published in: Ophthalmic genetics (2021)
Ocular developmental features were the most common findings whereas phenotypic features related to pigmentation were less common findings but there were no genotype-phenotype correlations. All patients with a genetically confirmed diagnosis of albinism fulfilled the diagnostic criteria by Kruijt irrespective of genetic subtype.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • optical coherence tomography
  • drug induced