Primary Ciliary Dyskinesia

Maimoona A Zariwala; Michael R Knowles; Margaret W Leigh

Primary Ciliary Dyskinesia

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2007 Jan 24 [updated 2019 Dec 5].

Authors

Maimoona A Zariwala¹, Michael R Knowles², Margaret W Leigh³

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
² Department of Medicine, Pulmonary and Critical Care Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
³ Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina

PMID: 20301301
Bookshelf ID: NBK1122

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.

Sections

Publication types

Review