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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisKlopocki, E; Lohan, S; Brancati, F; Koll, R; Brehm, A; Seemann, P; Dathe, K; Stricker, S; Hecht, J; Bosse, K; Betz, RC; Garaci, FG; Dallapiccola, B; Jain, M; Muenke, M; Ng, VCW; Chan, W; Chan, D; Mundlos, S2011184
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, M1998449
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, M1997296
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephalyRoessler, E; Belloni, E; Gaudenz, K; Vargas, F; Scherer, SW; Tsui, LC; Muenke, M1997446
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.Belloni, E; Muenke, M; Roessler, E; Traverso, G; SiegelBartelt, J; Frumkin, A; Mitchell, HF; DonisKeller, H; Helms, C; Hing, AV; Heng, HH; Koop, B; Martindale, D; Rommens, JM; Tsui, LC; Scherer, SW1996368
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Roessler, E; Belloni, E; Gaudenz, K; Jay, P; Berta, P; Scherer, SW; Tsui, LC; Muenke, M1996334
Physical mapping of the holoprosencephaly critical region on chromosome 7q36Gurrieri, F; Trask, BJ; Van Den Engh, G; Krauss, CM; Schinzel, A; Pettenati, MJ; Schindler, D; DietzBand, J; Vergnaud, G; Scherer, SW; Tsui, LC; Muenke, M1993239
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