Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males
with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men …

Cystic fibrosis (CF) has been shown to affect people all over the world. While life expectancy
for people with CF has increased substantially, CF is still associated with death in infants …

Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction
of the CFTR gene. It is a multisystem disease that most often affects White individuals. In …

RESUMO A fibrose cística (FC) é uma doença genética autossômica recessiva
caracterizada pela disfunção do gene CFTR. Trata-se de uma doença multissistêmica que …

The burden of cystic fibrosis (CF) in Latin America is being increasingly recognized and is
significant compared with other regions of the world. In this short communication, we assess …

Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases
(BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and …

Medical Genetics has a recent history in Brazil and started out as a research program in
Human Genetics during the 1950s, mainly by a shift in work of Brazilian scientists from …

Cystic fibrosis (CF) is a highly prevalent autosomal recessive disorder that is caused by
mutations in the CF transmembrane conductance regulator (CFTR) gene (7q31. 2), which …

Background Sweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis.
Sweat conductivity is widely used although still considered a screening test. Methods This …

Abstract Background Cystic Fibrosis (CF) is an autosomal recessive disorder with life-
threatening organ manifestations. 87% of CF patients develop exocrine pancreas …