Ontology highlight
ABSTRACT:
SUBMITTER: Reed B
PROVIDER: S-EPMC2598385 | biostudies-literature | 2008 Dec
REPOSITORIES: biostudies-literature
Reed Berenice B McFann Kim K Kimberling William J WJ Pei York Y Gabow Patricia A PA Christopher Karen K Petersen Eric E Kelleher Catherine C Fain Pamela R PR Johnson Ann A Schrier Robert W RW
American journal of kidney diseases : the official journal of the National Kidney Foundation 20080721 6
<h4>Background</h4>At the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) gave no family history of ADPKD. There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability. To confirm de novo sequence variants, we have undertaken clinical and genetic screening of affected offspring and their parents.<h4 ...[more]