Condition: Surfactant Metabolism Dysfunction, Pulmonary, 1


rs137853202 in SFTPB gene and Surfactant Metabolism Dysfunction, Pulmonary, 1 PMID 7491219 1995 Partial deficiency of surfactant protein B in an infant with chronic lung disease.

PMID 21965505 2011 Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B.

PMID 23625987 2013 Genetic testing in children with surfactant dysfunction.

PMID 26199800 2015 Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

PMID 8163685 1994 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.