“Ciliopathies (Ciliopathic Disorders)”  

Ciliopathy

  In our body, Ciliopathies comprise a heterogeneous group of dis-orders associated with genetic mutations encoding defective proteins, which result in either abnormal formation, maintenance or function of cilia.
  Examples of conditions associated with ciliopathies include:

• Alstrom syndrome
• Bardet-Biedl syndrome
• Joubert syndrome
• Meckel-Gruber syndrome
• nephronophthisis
• OFD syndrome
• Primary Ciliary Dyskinesia
• polycystic kidney dis-ease
• retinitis pigmentosa
• Senior-Loken syndrome

*

_[11231]