These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.
    Author: Heimler A, Lieber E.
    Journal: Am J Med Genet; 1986 Sep; 25(1):15-27. PubMed ID: 3799714.
    Abstract:
    The family on which this report is based is of interest because it contains individuals with the branchio-oto-renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; only branchial and ear anomalies; and apparent nonpenetrance of the syndrome. This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.
    [Abstract] [Full Text] [Related] [New Search]