Article
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jan 2002
Matsushima Yoshibumi, Shinkai Yusuke, Kobayashi Yasuhito, Sakamoto Michihiro, Kunieda Tetsuo, Tachibana Masayoshi
Abstract excerpt
Waardenburg syndrome (WS) is a hereditary auditory-pigmentary syndrome with hearing impairment and pigmentation anomaly of the skin and iris. In addition to these major symptoms, WS type 4 is associated with Hirschsprung disease. To date, three genes responsible for WS4 have been cloned: genes for a transcription factor SOX10, endothelin 3 (EDN3), and endothelin B receptor (EDNRB). We here describe a novel mutant...
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