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Pathophysiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Pathophysiology

  • pathophysiology of Bardet-Biedl syndrome is still largely unknown but it appears that cilia dysfunction lies at the centre of the condition. The abnormal cilia are spread throughout the body are involved with numerous functions including cell signalling and embryological development. Other diseases that may be due to cilia dysfunction include (1):
    • polycystic kidneys
    • retinitis pigmentosa
    • situs invertus
    • kartagener's syndrome

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