C65 PEDIATRIC CASE REPORTS: BRONCHIECTASIS, CYSTIC FIBROSIS, AND LUNG INFECTIONS: Single Promoter Region Cftr Mutation In An African American Boy With Cftr-Related Metabolic Syndrome

Introduction: Implementation of universal newborn screening and more widely available genetic testing have helped uncover over 1700 mutations of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR), and with it, a vast spectrum of CF disease. [...]we should not hesitate to diagnose CR...

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Bibliographic Details
Published in:American journal of respiratory and critical care medicine 2017-01, Vol.195
Main Authors: Bouso, J, Makris, C, Elidemir, O
Format: Article
Language:English
Subjects:
African Americans
Cystic fibrosis
Family medical history
Lung diseases
Medical screening
Metabolic syndrome
Mutation
Patients
Pediatrics
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Summary:Introduction: Implementation of universal newborn screening and more widely available genetic testing have helped uncover over 1700 mutations of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR), and with it, a vast spectrum of CF disease. [...]we should not hesitate to diagnose CRMS in atypical patients who could benefit from standard CF treatments.
ISSN:1073-449X
1535-4970