A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1

Hughes, Anne E. ; Newton, Valerie E. ; Liu, Xue Z. ; Read, Andrew P.

[s.l.] : Nature Publishing Group
Published 1994
ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
Medicine
Notes:
[Auszug] Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now ...
Type of Medium:
Electronic Resource
URL: