Nephronophthisis-Related Ciliopathies

Review
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nephronophthisis-related ciliopathies. The following are the goals of this overview.

Goal 1: Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies.

Goal 2: Review the genetic causes of nephronophthisis-related ciliopathies.

Goal 3: Review the differential diagnosis of nephronophthisis-related ciliopathies with a focus on genetic conditions.

Goal 4: Provide an evaluation strategy to identify the genetic cause of a nephronophthisis-related ciliopathy in a proband (when possible).

Goal 5: Inform genetic counseling of an individual with a nephronophthisis-related ciliopathy and their family members.

Goal 6: Review management of nephronophthisis-related ciliopathies.

Publication types

  • Review