Mutational analysis indicates that the hereditary sacral agenesis gene, HLXB9, i s the sole locus for Currarino Triad and different mutation classes produce equivalent phenotypes.

D M Hagan, Alan Ross,Tom Strachan, Ruizperez,Sally Ann Lynch,Yong Mei Wang,Peter J Scambler, E Custard, W Reardon,Maximilian Muenke,Peter J Nixon, C Papapetrou,R M Winter,Yvonne J K Edwards, K Morrison, M Barrow, M P Cordieralex,P Correia,Sharon P Gaskill,Sixto Garciaminaur, R Gereige, R Hayward,Tessa Homfray,C Mckeown, Murday,Henri Plauchu, N Shannon, L Spitz, Sarah J Lindsay

mag(2000)

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关键词
mutation,phenotype,locus,analysis
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