Ontology highlight
ABSTRACT:
SUBMITTER: Patat O
PROVIDER: S-EPMC4974083 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Patat Olivier O Pagin Adrien A Siegfried Aurore A Mitchell Valérie V Chassaing Nicolas N Faguer Stanislas S Monteil Laetitia L Gaston Véronique V Bujan Louis L Courtade-Saïdi Monique M Marcelli François F Lalau Guy G Rigot Jean-Marc JM Mieusset Roger R Bieth Eric E
American journal of human genetics 20160728 2
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azoospermic men with CBAVD was retrospectively reassessed with more stringent selection criteria based on consistent clinical data, complete description of semen and reproductive excurrent ducts, extensi ...[more]