The purpose of this overview is to increase the awareness of clinicians regarding the causes of Bardet-Biedl syndrome and related genetic counseling issues.
The following are the goals of this overview:
Goal 1: Describe the clinical characteristics of Bardet-Biedl syndrome.
Goal 2: Review the genetic causes of Bardet-Biedl syndrome.
Goal 3: Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible).
Goal 4: Review management of Bardet-Biedl syndrome.
Goal 5: Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.
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