… 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 …

… 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 …

… 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 …

… so we cannot suggest a genotype-phenotype correlation, although this patient died … an
ABCA3 deficiency should be considered after ruling out other pathologies. As ABCA3 deficiency …

… We present a case of a male late preterm newborn with inherited surfactant deficiency in
whom we identified the likely pathogenic c.604G>A variant in one allele and splice region/intron …

… commonly occurs due to the immaturity-related deficiency of … (SNPs) of the ABCA3 gene
to assess the ABCA3 gene as a … While a genotype–phenotype correlation has not been …