Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience

Keyphrases

• Consanguinity 100%
• Center Experience 100%
• Primary Ciliary Dyskinesia 100%
• Laterality Defects 100%
• Neonatal Diagnosis 100%
• Tertiary Care Centers 100%
• Early Diagnosis 66%
• Genetic Variants 66%
• Early Infantile 66%
• Infantile Period 66%
• Pathogenic Variants 66%
• Genetic Testing 33%
• Genetic mutation 33%
• Preterm Neonates 33%
• Gestational Age 33%
• Retrospective Analysis 33%
• Atypical Presentation 33%
• University Medical Centre 33%
• Age at Diagnosis 33%
• Genetic Diagnosis 33%
• Recent Experience 33%
• Genetic Basis 33%
• Genetic Confirmation 33%
• Diagnostic Approach 33%
• Atelectasis 33%
• Respiratory Distress 33%
• Hypoxemia 33%
• Direct Testing 33%
• Oxygen Support 33%
• DNAAF3 33%
• Efficient Test 33%
• DNAH1 33%
• Upper Lobe 33%
• Congenital Cardiac Malformation 33%
• Organ Laterality 33%

Medicine and Dentistry

• Consanguinity 100%
• Primary Ciliary Dyskinesia 100%
• Genetics 100%
• Hemispheric Dominance 60%
• Early Diagnosis 40%
• Health Care Cost 20%
• Genetic Screening 20%
• Neonate 20%
• Infancy 20%
• Hypoxemia 20%
• Congenital Malformation 20%
• Atelectasis 20%
• Respiratory Distress 20%
• Gene Mutation 20%
• Gestational Age 20%