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Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinic...

Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinic...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3826280

Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

About this item

Full title

Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Publisher

New York, NY: American Thoracic Society

Journal title

American journal of respiratory and critical care medicine, 2013-10, Vol.188 (8), p.913-922

Language

English

Formats

Publication information

Publisher

New York, NY: American Thoracic Society

More information

Scope and Contents

Contents

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limita...

Alternative Titles

Full title

Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3826280

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3826280

Other Identifiers

ISSN

1073-449X,1535-4970

E-ISSN

1535-4970

DOI

10.1164/rccm.201301-0059ci

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