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Review

Bardet-Biedl Syndrome Overview

RaeLynn Forsyth  1 , Meral Gunay-Aygun  2   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

Bardet-Biedl Syndrome Overview

RaeLynn Forsyth et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of Bardet-Biedl syndrome;

  2. 2

    Review the genetic causes of Bardet-Biedl syndrome;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible);

  4. 4

    Review management of Bardet-Biedl syndrome;

  5. 5

    Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.

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References

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