Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

NullABCA3in humans: Large homozygousABCA3deletion, correlation to clinical-pathological findings

(2014) Paola Carrera et al.   PEDIATRIC PULMONOLOGY

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

(2013) Geoffrey Kurland et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Genetic testing in children with surfactant dysfunction

(2013) S. Turcu et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

(2013) R. Epaud et al.   EUROPEAN RESPIRATORY JOURNAL

Variable clinical outcome of ABCA3 deficiency in two siblings

(2013) Surendran Thavagnanam et al.   PEDIATRIC PULMONOLOGY

Ultrastructural Characterization of Genetic Diffuse Lung Diseases in Infants and Children: A Cohort Study and Review

(2013) Arianna Citti et al.   ULTRASTRUCTURAL PATHOLOGY

An intronic ABCA3 mutation that is responsible for respiratory disease

(2012) Amit Agrawal et al.   PEDIATRIC RESEARCH

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

(2012) J. A. Wambach et al.   PEDIATRICS

Surfactant Protein-C Promoter Variants Associated With Neonatal Respiratory Distress Syndrome Reduce Transcription

(2010) Jennifer A Wambach et al.   PEDIATRIC RESEARCH

Genetic Disorders of Surfactant Dysfunction

(2009) Susan E. Wert et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Usual Interstitial Pneumonia in an Adolescent With ABCA3 Mutations*

(2008) Lisa R. Young et al.   CHEST

Clinical, radiological and pathological features of ABCA3 mutations in children

(2007) M L Doan et al.   THORAX