Add to ORKGWe report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary expression and pancreatic insufficiency. The sweat test was altered in all three siblings, and all had intestinal occlusion in young age. The whole scanning of CFTR revealed the rare F508del/D614G genotype. The discordance of clinical expression within the same family reinforces the putative role of modifier genes of CF phenotype
During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis sib...
We have confirmed heterogenity in C F using a different combination of primary clinical variables th...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-di...
AbstractWe report an example of atypical CF, i.e., a family in which three siblings were affected by...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentati...
Cystic Fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progres...
AbstractNon-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present...
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transm...
Cystic Fibrosis (CF) is a life threatening autosomal recessive disorder caused by a mutation in the ...
During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis sib...
We have confirmed heterogenity in C F using a different combination of primary clinical variables th...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-di...
AbstractWe report an example of atypical CF, i.e., a family in which three siblings were affected by...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentati...
Cystic Fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progres...
AbstractNon-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present...
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transm...
Cystic Fibrosis (CF) is a life threatening autosomal recessive disorder caused by a mutation in the ...
During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis sib...
We have confirmed heterogenity in C F using a different combination of primary clinical variables th...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...