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Article

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.

American journal of respiratory and critical care medicine - 1 Feb 2015

Davis Stephanie D, Ferkol Thomas W, Rosenfeld Margaret, Lee Hye-Seung, Dell Sharon D, Sagel Scott D, Milla Carlos, Zariwala Maimoona A, Pittman Jessica E, Shapiro Adam J, Carson Johnny L, Krischer Jeffrey P, Hazucha Milan J, Cooper Matthew L, Knowles Michael R, Leigh Margaret W

Abstract excerpt

RATIONALE: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. OBJECTIVES: To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. METHODS: A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North...

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Identifiers

PMID: 25493340
DOI: 10.1164/rccm.201409-1672OC
PMCID: PMC4351577

Genes

CCDC39
CCDC40

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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