Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

Keyphrases

• Abnormal Splicing 20%
• Atrioventricular 20%
• Autosomal Dominant 20%
• Balloon Dilatation 20%
• Bronchoscopy 20%
• Cardiac Evaluation 20%
• Clinical Course 20%
• Clinical Manifestations 20%
• Congestive Heart Failure 20%
• Connective Tissue Disease 20%
• Dilated Aorta 20%
• Early Neonatal Period 20%
• Emphysematous Change 20%
• Fibrillin-1 (FBN1) 20%
• Fibrillin-1 Gene 100%
• Graves 20%
• Heart murmur 20%
• Hyperinflation 20%
• Imaging Studies 20%
• Left Lung 20%
• Lower Airway Obstruction 20%
• Mediastinal Shift 20%
• Neonatal Life 20%
• Neonatal Marfan Syndrome 100%
• Oxygen Therapy 20%
• Pulmonary Emphysema 100%
• Pulmonary Involvement 20%
• Pulmonic Stenosis 40%
• Regurgitation 20%
• Respiratory Distress 20%
• Right Lung 20%
• Severe Respiratory Failure 20%
• Splice Site 20%
• Splicing Event 20%
• Splicing mutation 100%
• Therapeutic Challenges 20%
• Tracheobronchomalacia 100%
• Unusual Findings 20%
• Upper Airway Obstruction 20%

Medicine and Dentistry

• Airway Obstruction 20%
• Aortic Root 20%
• Autosomal Dominant Inheritance 20%
• Balloon Dilatation 20%
• Base 20%
• Bronchoscopy 20%
• Congestive Heart Failure 20%
• Connective Tissue Disease 20%
• Disease Course 20%
• Fibrillin 1 100%
• Heart Murmur 20%
• Intron 20%
• Left Lung 20%
• Lung Emphysema 100%
• Marfan Syndrome 100%
• Oxygen Therapy 20%
• Respiratory Distress 40%
• Right Lung 20%
• Stenosis 40%
• Tracheobronchomalacia 100%