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Review

Joubert Syndrome

Ian A Glass  1 , Jennifer C Dempsey  2 , Melissa Parisi  3 , Dan Doherty  4
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

Joubert Syndrome

Ian A Glass et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of Joubert syndrome;

  2. 2

    Review the genetic causes of Joubert syndrome;

  3. 3

    Provide evaluation strategies to identify the genetic cause of Joubert syndrome in a proband (when possible);

  4. 4

    Review management of Joubert syndrome;

  5. 5

    Inform genetic counseling of family members of an individual with Joubert syndrome.

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References

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