A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report

The c.1375_1383del variant is a rare CFTR variant and is associated with early, clinically significant manifestations of cystic fibrosis in infants, which necessitates early recognition and aggressive management to improve patient outcomes. This case underscores the need for awareness of rare CFTR variants and their potential clinical implications, which can lead to tailored treatment approaches, ultimately enhancing the quality of life for affected individuals.