Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency

CONCLUSIONS: We consider that this case report contributes to the literature on RDS by showing the presence of c.3677 T > C (p.Leu1226Pro), a new homozygous variant of ABCA3 in our patient.PMID:34449154 | DOI:10.24953/turkjped.2021.04.019
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Source Type: research