Genetic mutations affecting proteins required for normal surfactant protein function are a rare
cause of respiratory disease. The genes identified that cause respiratory disease are …

Although our understanding of the genetics and pathology of congenital lung diseases such
as surfactant protein deficiency, cystic fibrosis, and alpha-1 antitrypsin deficiency is …

Pediatric lung transplant is a viable option for treatment of end-stage lung disease in
children, with> 100 pediatric lung transplants reported to the Registry of the International …

Surfactant protein (SP)-B is a 79-residue polypeptide crucial for the biophysical and
physiological function of endogenous lung surfactant. SP-B is a member of the saposin or …

Surfactant protein B encoding gene mutations have been related to early onset fatal
respiratory distress in full-term neonates. We report a school-aged male child homozygous …

Surfactant Protein B Deficiency is a rare but lethal monogenetic, congenital lung disease of
the neonate that is unresponsive to any treatment except lung transplantation. Based on the …

Genetics and Physiology of Surfactant Protein Deficiencies — Johns Hopkins University
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