The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - Mar 17 1997|
- cystic fibrosis
- G542X mutation
- genotype/phenotype correlation
ASJC Scopus subject areas