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Review

Nephronophthisis-Related Ciliopathies

Marijn Stokman  1 , Marc Lilien  2 , Nine Knoers  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Nephronophthisis-Related Ciliopathies

Marijn Stokman et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies;

  2. 2

    Review the genetic causes of nephronophthisis-related ciliopathies;

  3. 3

    Review the differential diagnosis of nephronophthisis-related ciliopathies with a focus on genetic conditions;

  4. 4

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

  5. 5

    Review management of nephronophthisis-related ciliopathies;

  6. 6

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

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