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Results: 1-2 |
Results: 2
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual
Authors: Sobetzko, D Eich, G Kalff-Suske, M Grzeschik, KH Superti-Furga, A
Citation: D. Sobetzko et al., Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual, AM J MED G, 90(3), 2000, pp. 239-242
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome
Authors: Kalff-Suske, M Wild, A Topp, J Wessling, M Jacobsen, EM Bornholdt, D Engel, H Heuer, H Aalfs, CM Ausems, MGEM Barone, R Herzog, A Heutink, P Homfray, T Gillessen-Kaesbach, G Konig, R Kunze, J Meinecke, P Muller, D Rizzo, R Strenge, S Superti-Furga, A Grzeschik, KH
Citation: M. Kalff-suske et al., Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome, HUM MOL GEN, 8(9), 1999, pp. 1769-1777
Risultati: 1-2 |