Molecular genetics of the Pax gene family.
Three members of the Pax gene family are now known to be responsible for the established mouse developmental phenotypes Splotch, Small eye and undulated; two of these genes are implicated in the human congenital diseases Waardenburg's syndrome and aniridia. The mouse mutants will act as model systems for these human disorders and, in addition, will provide insights into the processes of vertebrate development.
Hill
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MRC Human Genetics Unit, Western General Hospital, Scotland, UK.
Hanson
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D000818:Animals; D004330:Drosophila / Q000235:genetics*; D005314:Embryonic and Fetal Development / Q000235:genetics; D006801:Humans; D051379:Mice; D005810:Multigene Family / Q000235:genetics*; D009154:Mutation / Q000235:genetics