Article
Clinical, radiological and pathological features of ABCA3 mutations in children.
Thorax - 1 Apr 2008
Doan M L, Guillerman R P, Dishop M K, Nogee L M, Langston C, Mallory G B, Sockrider M M, Fan L L
Abstract excerpt
BACKGROUND: Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term newborn infants and chronic interstitial lung disease in older children. Previous studies on ABCA3 mutations have focused primarily on the genetic abnormalities and reported limited clinical information about the resultant disease. A study was undertaken to analyse systematically the clinical presentation, pulmonary...
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