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Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.

Juliana da Silveira SchaurenAna C M B G TorresRodrigo C de AlmeidaPablo S C SantosFabiane Mulinari-BrennerLuiz H LimaLuiz A Zago FilhoNaoye ShiokawaMaria da Graça BicalhoMario T Sato
Published in: Clinical genetics (2019)
Keyphrases
  • copy number
  • optical coherence tomography
  • diabetic retinopathy
  • single cell
  • early onset
  • cataract surgery
  • genome wide
  • age related macular degeneration
  • dna methylation
  • gene expression