Primary Ciliary Dyskinesia

Maimoona A Zariwala, Michael R Knowles, Margaret W Leigh, Margaret P Adam, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya, Maimoona A Zariwala, Michael R Knowles, Margaret W Leigh, Margaret P Adam, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding primary ciliary dyskinesia and its genetic causes and management. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of primary ciliary dyskinesia.

Goal 2: Review the genetic causes of primary ciliary dyskinesia.

Goal 3: Provide an evaluation strategy to identify the genetic cause of primary ciliary dyskinesia in a proband.

Goal 4: Inform genetic counseling of family members of an individual with primary ciliary dyskinesia.

Goal 5: Review management of primary ciliary dyskinesia.

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