-
Je něco špatně v tomto záznamu ?
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
J. Raidt, S. Riepenhausen, P. Pennekamp, H. Olbrich, I. Amirav, RA. Athanazio, M. Aviram, JE. Balinotti, O. Bar-On, SFN. Bode, M. Boon, M. Borrelli, SB. Carr, S. Crowley, E. Dehlink, S. Diepenhorst, P. Durdik, B. Dworniczak, N. Emiralioğlu, E....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
- MeSH
- axonemální dyneiny genetika MeSH
- cytoskeletální proteiny MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp * MeSH
- genetická variace MeSH
- genetické asociační studie * MeSH
- genotyp * MeSH
- Kartagenerův syndrom genetika patofyziologie MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- předškolní dítě MeSH
- proteiny MeSH
- registrace MeSH
- senioři MeSH
- usilovný výdechový objem MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. METHODS: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV1)) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV1. RESULTS: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV1 z-score (-1.66). Median FEV1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort. CONCLUSION: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.
Airway Research Center North Lübeck Germany
Berlin Institute of Health at Charité Universitätsmedizin Berlin Berlin Germany
Biomedical Research in End Stage and Obstructive Lung Disease Hannover Hannover Germany
Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos 3 Madrid Spain
Clinical and Experimental Sciences University of Southampton Faculty of Medicine Southampton UK
Consejo Nacional de Investigaciones Científicas y Técnicas Buenos Aires Argentina
Department Chrometa BREATHE Laboratory Katholieke Universiteit Leuven Leuven Belgium
Department of Clinical Medicine University of Copenhagen Copenhagen Denmark
Department of General Pediatrics University Hospital Muenster Muenster Germany
Department of Human Genetics Hannover Medical School Hannover Germany
Department of Paediatrics University Hospital Leuven Belgium
Department of Paediatrics University Hospital of Pisa Pisa Italy
Department of Pediatric and Adolescent Medicine Pediatrics 3 Medical University Innsbruck Austria
Department of Pediatric and Adolescent Medicine University Hospital Ulm Ulm Germany
Department of Pediatric Pulmonology Marmara University School of Medicine Istanbul Turkey
Department of Pediatrics Faculty of Medicine Tel Aviv University Tel Aviv Israel
Department of Pediatrics Institution of Clinical Sciences Lund University Lund Sweden
Department of Pediatrics University of Alberta Edmonton AB Canada
Department of Respiratory Diseases University Hospitals Leuven Leuven Belgium
Department of Respiratory Medicine Hannover Medical School Hannover Germany
Division of Pediatric Pulmonology Faculty of Medicine Hacettepe University Ankara Turkey
Faculty of Health Sciences Ben Gurion University of the Negev Beer Sheva Israel
Faculty of Medicine Tel Aviv University Tel Aviv Israel
German Center for Lung Research associated partner site Berlin Germany
Human Genetics and Genomic Medicine University of Southampton Faculty of Medicine Southampton UK
Institute of Human Genetics Polish Academy of Sciences Poznan Poland
Institute of Medical Informatics University of Muenster Muenster Germany
Paediatric Department of Allergy and Lung Diseases Oslo University Hospital Oslo Norway
Pediatric Pulmonary Unit Soroka Medical Center Beer Sheva Israel
Pediatric Pulmonology Unit Hospital Archbishop Makarios 3 Nicosia Cyprus
Pulmonary Division Heart Institute Hospital das Clínicas da Faculdade de São Paulo São Paulo Brazil
Pulmonary Institute Schneider Children's Medical Center of Israel Petach Tikva Israel
Respiratory Center Ricardo Gutiérrez Children's Hospital Buenos Aires Argentina
Respiratory Physiology Laboratory Medical School University of Cyprus Nicosia Cyprus
University Children's Hospital Ruhr University Bochum Katholisches Klinikum Bochum Bochum Germany
Wessex Regional Genetics Laboratory Salisbury NHS Foundation Trust Salisbury UK
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc24019376
- 003
- CZ-PrNML
- 005
- 20241024111453.0
- 007
- ta
- 008
- 241015s2024 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1183/13993003.01769-2023 $2 doi
- 035 __
- $a (PubMed)38871375
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Raidt, Johanna $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 245 10
- $a Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations / $c J. Raidt, S. Riepenhausen, P. Pennekamp, H. Olbrich, I. Amirav, RA. Athanazio, M. Aviram, JE. Balinotti, O. Bar-On, SFN. Bode, M. Boon, M. Borrelli, SB. Carr, S. Crowley, E. Dehlink, S. Diepenhorst, P. Durdik, B. Dworniczak, N. Emiralioğlu, E. Erdem, R. Fonnesu, S. Gracci, J. Große-Onnebrink, K. Gwozdziewicz, EG. Haarman, CR. Hansen, C. Hogg, MG. Holgersen, E. Kerem, RW. Körner, K. Kötz, P. Kouis, MR. Loebinger, N. Lorent, JS. Lucas, D. Maj, MA. Mall, JK. Marthin, V. Martinu, H. Mazurek, HM. Mitchison, T. Nöthe-Menchen, U. Özçelik, M. Pifferi, A. Pogorzelski, FC. Ringshausen, JF. Roehmel, S. Rovira-Amigo, N. Rumman, A. Schlegtendal, A. Shoemark, S. Sperstad Kennelly, BO. Staar, S. Sutharsan, S. Thomas, N. Ullmann, J. Varghese, S. von Hardenberg, WT. Walker, M. Wetzke, M. Witt, P. Yiallouros, A. Zschocke, E. Ziętkiewicz, KG. Nielsen, H. Omran
- 520 9_
- $a BACKGROUND: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. METHODS: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV1)) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV1. RESULTS: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV1 z-score (-1.66). Median FEV1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort. CONCLUSION: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a dítě $7 D002648
- 650 12
- $a genotyp $7 D005838
- 650 _2
- $a mladiství $7 D000293
- 650 12
- $a genetické asociační studie $7 D056726
- 650 _2
- $a mladý dospělý $7 D055815
- 650 _2
- $a lidé středního věku $7 D008875
- 650 12
- $a fenotyp $7 D010641
- 650 _2
- $a registrace $7 D012042
- 650 _2
- $a axonemální dyneiny $x genetika $7 D056444
- 650 _2
- $a usilovný výdechový objem $7 D005541
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a Kartagenerův syndrom $x genetika $x patofyziologie $7 D007619
- 650 _2
- $a genetická variace $7 D014644
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a cytoskeletální proteiny $7 D003598
- 650 _2
- $a proteiny $7 D011506
- 651 _2
- $a Evropa $7 D005060
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Riepenhausen, Sarah $u Institute of Medical Informatics, University of Muenster, Muenster, Germany
- 700 1_
- $a Pennekamp, Petra $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Olbrich, Heike $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Amirav, Israel $u Department of Pediatrics, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel $u Department of Pediatrics, University of Alberta, Edmonton, AB, Canada $1 https://orcid.org/0000000269175285
- 700 1_
- $a Athanazio, Rodrigo A $u Pulmonary Division - Heart Institute, Hospital das Clínicas da Faculdade de São Paulo, São Paulo, Brazil $1 https://orcid.org/0000000293995275
- 700 1_
- $a Aviram, Micha $u Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Israel $u Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
- 700 1_
- $a Balinotti, Juan E $u Respiratory Center, Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina $u Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina
- 700 1_
- $a Bar-On, Ophir $u Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach-Tikva, Israel $u Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel $1 https://orcid.org/0000000172594539
- 700 1_
- $a Bode, Sebastian F N $u Center for Pediatrics - Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany $u Department of Pediatric and Adolescent Medicine, University Hospital Ulm, Ulm, Germany
- 700 1_
- $a Boon, Mieke $u Department of Paediatrics, University Hospital, Leuven, Belgium
- 700 1_
- $a Borrelli, Melissa $u Department of Translational Medical Sciences, Pediatric Pulmonology, Federico II University, Naples, Italy
- 700 1_
- $a Carr, Siobhan B $u Department of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK $1 https://orcid.org/0000000305802478
- 700 1_
- $a Crowley, Suzanne $u Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway
- 700 1_
- $a Dehlink, Eleonora $u Division of Pediatric Pulmonology, Allergy and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
- 700 1_
- $a Diepenhorst, Sandra $u Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands
- 700 1_
- $a Durdik, Peter $u Department of Paediatrics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia
- 700 1_
- $a Dworniczak, Bernd $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Emiralioğlu, Nagehan $u Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey $1 https://orcid.org/0000000214058401
- 700 1_
- $a Erdem, Ela $u Department of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey
- 700 1_
- $a Fonnesu, Rossella $u Department of Paediatrics, University Hospital of Pisa, Pisa, Italy
- 700 1_
- $a Gracci, Serena $u Department of Paediatrics, University Hospital of Pisa, Pisa, Italy
- 700 1_
- $a Große-Onnebrink, Jörg $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Gwozdziewicz, Karolina $u Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland
- 700 1_
- $a Haarman, Eric G $u Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands
- 700 1_
- $a Hansen, Christine R $u Department of Pediatrics, Institution of Clinical Sciences, Lund University, Lund, Sweden $u Section for Lung Medicine, Metabolism and Neurology, Pediatrics Clinic, Skane University Hospital, Lund, Sweden
- 700 1_
- $a Hogg, Claire $u Department of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK
- 700 1_
- $a Holgersen, Mathias G $u Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark $1 https://orcid.org/0000000199446253
- 700 1_
- $a Kerem, Eitan $u Department of Pediatrics and Pediatric Pulmonology, Hadassah Hebrew University Medical Center, Jerusalem, Israel $1 https://orcid.org/000000024635386X
- 700 1_
- $a Körner, Robert W $u Department of Pediatrics, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany
- 700 1_
- $a Kötz, Karsten $u Department of Pediatrics, Queen Silvias Children Hospital, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden $1 https://orcid.org/0000000150265267
- 700 1_
- $a Kouis, Panayiotis $u Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus $1 https://orcid.org/0000000305115352
- 700 1_
- $a Loebinger, Michael R $u Royal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK
- 700 1_
- $a Lorent, Natalie $u Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium $u Department Chrometa, BREATHE Laboratory, Katholieke Universiteit Leuven, Leuven, Belgium $1 https://orcid.org/0000000226535885
- 700 1_
- $a Lucas, Jane S $u Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK $u Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK $1 https://orcid.org/0000000187019975
- 700 1_
- $a Maj, Debora $u Department of Paediatrics, University Hospital of Pisa, Pisa, Italy
- 700 1_
- $a Mall, Marcus A $u Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany $u German Center for Lung Research (DZL), associated partner site, Berlin, Germany $u Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany $1 https://orcid.org/0000000240572199
- 700 1_
- $a Marthin, June K $u Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark $1 https://orcid.org/0000000244203091
- 700 1_
- $a Martinu, Vendula $u Department of Paediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
- 700 1_
- $a Mazurek, Henryk $u Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland
- 700 1_
- $a Mitchison, Hannah M $u Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK
- 700 1_
- $a Nöthe-Menchen, Tabea $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Özçelik, Ugur $u Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
- 700 1_
- $a Pifferi, Massimo $u Department of Paediatrics, University Hospital of Pisa, Pisa, Italy
- 700 1_
- $a Pogorzelski, Andrzej $u Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland
- 700 1_
- $a Ringshausen, Felix C $u Department of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany $u Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany $1 https://orcid.org/0000000190844968
- 700 1_
- $a Roehmel, Jobst F $u Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany $u German Center for Lung Research (DZL), associated partner site, Berlin, Germany $u Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany $1 https://orcid.org/0000000215358852
- 700 1_
- $a Rovira-Amigo, Sandra $u Paediatric Pulmonology Section, Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain $u Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
- 700 1_
- $a Rumman, Nisreen $u Department of Pediatrics, Faculty of Medicine, Makassed Hospital, Al-Quds University, East Jerusalem, Palestine $u Section of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA
- 700 1_
- $a Schlegtendal, Anne $u University Children's Hospital, Ruhr University Bochum, Katholisches Klinikum Bochum, Bochum, Germany $1 https://orcid.org/0000000267373624
- 700 1_
- $a Shoemark, Amelia $u Royal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK $u Division of Molecular and Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK $1 https://orcid.org/0000000173606060
- 700 1_
- $a Sperstad Kennelly, Synne $u Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway
- 700 1_
- $a Staar, Ben O $u Department of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany $u Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany
- 700 1_
- $a Sutharsan, Sivagurunathan $u Department of Pulmonary Medicine, Adult Cystic Fibrosis Center, University Hospital Essen - Ruhrlandklinik, University of Duisburg-Essen, Essen, Germany
- 700 1_
- $a Thomas, Simon $u Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK $u Human Genetics and Genomic Medicine, University of Southampton Faculty of Medicine, Southampton, UK
- 700 1_
- $a Ullmann, Nicola $u Pneumology and Cystic Fibrosis Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
- 700 1_
- $a Varghese, Julian $u Institute of Medical Informatics, University of Muenster, Muenster, Germany
- 700 1_
- $a von Hardenberg, Sandra $u Department of Human Genetics, Hannover Medical School, Hannover, Germany
- 700 1_
- $a Walker, Woolf T $u Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK $u Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
- 700 1_
- $a Wetzke, Martin $u Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany $u Department of Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany $u Airway Research Center North (ARCN) Lübeck, German Center for Lung Research (DZL), Lübeck, Germany
- 700 1_
- $a Witt, Michal $u Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
- 700 1_
- $a Yiallouros, Panayiotis $u Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus $u Pediatric Pulmonology Unit, Hospital "Archbishop Makarios III", Nicosia, Cyprus
- 700 1_
- $a Zschocke, Anna $u Department of Pediatric and Adolescent Medicine, Pediatrics III, Medical University, Innsbruck, Austria
- 700 1_
- $a Ziętkiewicz, Ewa $u Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
- 700 1_
- $a Nielsen, Kim G $u Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark $u Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
- 700 1_
- $a Omran, Heymut $u Department of General Pediatrics, University Hospital Muenster, Muenster, Germany Heymut.Omran@ukmuenster.de $1 https://orcid.org/0000000302826765
- 773 0_
- $w MED00001660 $t The European respiratory journal $x 1399-3003 $g Roč. 64, č. 2 (2024)
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/38871375 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20241015 $b ABA008
- 991 __
- $a 20241024111447 $b ABA008
- 999 __
- $a ok $b bmc $g 2201922 $s 1231349
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2024 $b 64 $c 2 $e 20240808 $i 1399-3003 $m The European respiratory journal $n Eur Respir J $x MED00001660
- LZP __
- $a Pubmed-20241015
