Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The introduction of newborn screening (NBS) in high prevalence countries for CF has considerably changed the diagnosing of...

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