1.
Gene
; 534(2): 417-20, 2014 Jan 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24269975
RESUMO
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.