Source: Annual Congress 2005 - The paediatric airway: diagnostic and therapeutic approaches
Disease area: Paediatric lung diseases



Rating:

Share or cite this content

Citations should be made in the following way:
R. Startari, M. Pandolfi, B. Tagliaferri, M. de Santi, I. Kantar, A. Fiocchi (Milan, Siena, Bergamo, Italy). Genetic mosaicism can delay the diagnosis of primary ciliary dyskinesia. Eur Respir J 2005; 26: Suppl. 49, 3996

Member's Comments

No comment yet.

Related content which might interest you: A rare genetic mutation in primary ciliary dyskinesia Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017 Factors influencing age at diagnosis of primary ciliary dyskinesia in European children Source: Eur Respir J 2010; 36: 1248-1258 Year: 2010 Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia Source: Virtual Congress 2020 – Tip the hat to paediatric bronchology Year: 2020 Comparison of diagnostic tools for primary ciliary dyskinesia Source: Annual Congress 2005 - New insights in respiratory infections in children Year: 2005 Management of primary ciliary dyskinesia in European children: recommendations and clinical practice Source: Eur Respir J 2012; 39: 1482-1491 Year: 2012 Primary ciliary dyskinesia: early diagnosis and impact on lung function Source: Eur Respir J 2006; 28: Suppl. 50, 495s Year: 2006 Primary ciliary dyskinesia Source: Eur Respir Mon 2011; 54: 201-217 Year: 2011 Diagnostic testing in primary ciliary dyskinesia Source: Eur Respir J 2016; 48: 960-961 Year: 2016 Diagnostic testing in primary ciliary dyskinesia Source: Eur Respir J 2016; 48: 959-960 Year: 2016 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia Source: Eur Respir J 2014; 44: 1579-1588 Year: 2014 Problems of making and confirming the diagnosis of primary ciliary dyskinesia (PCD) in children still exist Source: Annual Congress 2010 - Bronchoscopy and rare diseases in children Year: 2010 Primary cilliary dyskinesia (P.C.D.): an unusual familial inheritance with five siblings involved Source: Eur Respir J 2004; 24: Suppl. 48, 307s Year: 2004 Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association Source: Eur Respir J, 50 (5) 1700314; 10.1183/13993003.00314-2017 Year: 2017 Impact of the date of diagnosis on the clinical course of children with primary ciliary dyskinesia Source: Annual Congress 2011 - Rare lung diseases in children Year: 2011 Primary ciliary dyskinesia: phenotypic features of a cohort of patients in Argentina Source: Annual Congress 2008 - Paediatric respiratory epidemiology I: primary ciliary dyskinesia, sleep-disordered breathing, exercise-induced symptoms and rare diseases Year: 2008 Recessive HYDIN mutations cause primary ciliary dyskinesia without situs abnomalities Source: Annual Congress 2012 - COPD inflammation and genes Year: 2012 Vestibular function in adult patients with primary ciliary dyskinesia Source: Virtual Congress 2021 – Bronchiectasis and pleural infection Year: 2021 Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants Source: Eur Respir J 2001; 17: 444-448 Year: 2001 A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution Year: 2017