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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyVargas, FR; Roessler, E; Gaudenz, K; Belloni, E; Whitehead, AS; Kirke, PN; Mills, JL; Hooper, G; Stevenson, RE; Cordeiro, I; Correia, P; Felix, T; Gereige, R; Cunningham, ML; Canún, S; Antonarakis, SE; Strachan, T; Tsui, LC; Scherer, SW; Muenke, M1998446
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephalyRoessler, E; Ward, DE; Gaudenz, K; Belloni, E; Scherer, SW; Donnai, D; SiegelBartelt, J; Tsui, LC; Muenke, M1997295
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephalyRoessler, E; Belloni, E; Gaudenz, K; Vargas, F; Scherer, SW; Tsui, LC; Muenke, M1997445
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Roessler, E; Belloni, E; Gaudenz, K; Jay, P; Berta, P; Scherer, SW; Tsui, LC; Muenke, M1996327
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