… Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3
deficiency… Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J …

… or clinicians caring for infants and children newly diagnosed with ABCA3 deficiency may
seek … Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J …

… chILD due to ABCA3 deficiency were identified from the Kids … genotype–phenotype correlation
in chILD caused by ABCA3 … Variants can be grouped according to their effect on ABCA3 …

… genotype-phenotype correlation studies, … infants and children with biallelic ABCA3 missense
variants demonstrated similar relative transcript abundance. It is possible that some ABCA3 …

… A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in
a … Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st …

… mutations in SFTPB and ABCA3. Light … infants and electron microscopy in 8. Prenatal
diagnosis was performed in 8 women with a previous child who died because of ABCA3 deficiency; …

… caused by ABCA3 deficiency due to missense variants is variable. … Genotype–phenotype
correlation was demonstrated for infants with biallelic loss-of-function variants in ABCA3. …

… 20 years, the first one showing the typical ABCA3 deficiency-related pattern and the second,
… that genotype–phenotype correlations in infants, children and very rarely adults with ABCA3 …

… Initially, we excluded severe ABCA3 deficiency as the molecular cause of the diseases by
excluding complete ABCA3 deficiency and demonstrating evidence for some ABCA3 function (…

… This bi-allelic defect seems to be the genetic cause of this patient’s lethal RDS in … the ABCA3
deficiency. The in silico analysis showed no other genetic impairment of the ABCA3 gene or …