Bardet–Biedl Syndrome, Renal

Bardet–Biedl syndrome can result from mutations in at least 14 BBS genes regulating the protein expression for cilia that are involved in cell movement, perception of sensory input, and many different chemical signaling pathways

Barbara Gold

2018

Scholarcy highlights

  • Bardet–Biedl syndrome can result from mutations in at least 14 BBS genes regulating the protein expression for cilia that are involved in cell movement, perception of sensory input, and many different chemical signaling pathways
  • The retinal dystrophy appears as an atypical pigmentary retinal dystrophy of the photoreceptors with early macular involvement
  • Problems with night vision become apparent by mid-childhood, followed by blind

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