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Chondroectodermal dysplasia (Ellis-van Creveld disease)
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Rhizomelic chondrodysplasia punctata in an infant with del(4)(p14p16)
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A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis
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0001026538
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The gene for the Ellis-van Creveld syndrome maps to chromosome 4p16
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Francomano, C. A., Ortiz De Luna, R. I., Ide, S. E., Pyeritz, R. E., Wright, M., and Polymeropoulos, M. H. (1995). The gene for the Ellis-van Creveld syndrome maps to chromosome 4p16. Am. J. Hum. Genet. 57: A191.
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Single atrium and the Ellis-van Creveld syndrome
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Deletion of Huntington's disease-linked g8 (D4S10) locus in Wolf-Hirschorn syndrome
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Gusella, J. F., Tanzi, R. E., Bader, P. I., Phelan, M. C., Stevenson, R., Hayden, M. R., Hofman, K. J., Faryniarz, A. G., and Gibbons, K. (1985). Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschorn syndrome. Nature. 318: 75-78.
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10
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0025361004
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The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome
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Ivens, A., Flavin, N., Williamson, R., Dixon, M., Bates, G., Buckingham, M., and Robert, B. (1990). The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome. Hum. Genet. 84: 473-476.
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Strategies for multilocus linkage analysis in humans
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0001618637
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Dwarfism in the Amish. I. The Ellis-van Creveld syndrome
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McKusick, V. A., Egeland, J. A., Eldridge, R., and Krusen, D. E. (1964). Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull. Johns Hopkins Hosp. 115: 306-336.
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0000396344
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Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome)
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Metrakos, J. D., and Fraser, F. C. (1954). Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am. J. Hum. Genet. 6: 260-269.
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0027964261
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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
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Shiang, R., Thompson, L. M., Zhu, Y. Z., Church, D. M., Fielder, T. J., Bocian, M., Winckur, S. T., and Wasmuth, J. J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335-342.
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15
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0026480896
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Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4
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Stadler, H. S., Padanilam, K., Buetow, J. C., Murray, J. C., and Solursh, M. (1992). Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4. Proc. Natl. Acad. Sci. USA 89: 11579-11583.
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16
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0000687839
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Congenital heart disease in an adult with the Ellis-van Creveld syndrome
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Tubbs, F. E., Crevasse, L., and Green, L. R., Jr. (1962). Congenital heart disease in an adult with the Ellis-van Creveld syndrome. N. Engl. J. Med. 57: 829.
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0028009094
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Short rib-polydactyly syndrome and pericentric inversion of chromosome 4
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Urioste, M., Martinez-Frias, M. L., Bermejo, E., Jimenez, N., Romero, D., Nieto, C., and Villa, A. (1994). Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am. J. Med. Genet. 49: 94-97.
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