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

First Author  Foy C Year  1990
Journal  Am J Hum Genet Volume  46
Issue  6 Pages  1017-23
PubMed ID  2339698 Mgi Jnum  J:10498
Mgi Id  MGI:58949 Citation  Foy C, et al. (1990) Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse [see comments]. Am J Hum Genet 46(6):1017-23
abstractText  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.
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