Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians …

Few original studies have described the prevalence and severity of clinical symptoms of
primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all …

Rationale: Considerable confusion exists regarding nomenclature, classification, and
management of pediatric diffuse lung diseases due to the relative rarity and differences in the …

… Genes clinically sequenced in the cohort (n= 1,226) were well covered by WGS, with a
median exonic coverage of 40×±8×(mean±SD). All the molecular diagnoses made by …

… The genetic testing subcommittee members (SD Dell, DP, MAZ, and SDS) agreed on
inclusion and exclusion criteria for full-text review of all 91 articles (see Figure E1.1 in the online …

… For this confirmed PCD group, the prevalence of a laterality defect (35 of 71, or 49.3%) and
the symptom scores (2.87 ± 0.86; mean ± SD) were similar to those in 99 patients with PCD …

BACKGROUND: In 2010, the Canadian Thoracic Society (CTS) published a Consensus
Summary for the diagnosis and management of asthma in children six years of age and older, …

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia
(PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To delineate …

Unbiased genetic studies have uncovered surprising molecular mechanisms in human
cellular immunity and autoimmunity 1 . We performed whole-exome sequencing and targeted …