Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 1990 Jun;46(6):1017-23.

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

Author information

  • 1Department of Medical Genetics, University of Manchester, United Kingdom.

Abstract

We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.

PMID:
2339698
[PubMed - indexed for MEDLINE]
PMCID:
PMC1683816
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Write to the Help Desk