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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: francomano c. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. Polymeropoulos MH, et al. Among authors: francomano ca. Genomics. 1996 Jul 1;35(1):1-5. doi: 10.1006/geno.1996.0315. Genomics. 1996. PMID: 8661097 Free article.
The gene for pycnodysostosis maps to human chromosome 1cen-q21.
Polymeropoulos MH, Ortiz De Luna RI, Ide SE, Torres R, Rubenstein J, Francomano CA. Polymeropoulos MH, et al. Among authors: francomano ca. Nat Genet. 1995 Jun;10(2):238-9. doi: 10.1038/ng0695-238. Nat Genet. 1995. PMID: 7663522
Brachydactyly type C gene maps to human chromsome 12q24.
Polymeropoulos MH, Ide SE, Magyari T, Francomano CA. Polymeropoulos MH, et al. Among authors: francomano ca. Genomics. 1996 Nov 15;38(1):45-50. doi: 10.1006/geno.1996.0590. Genomics. 1996. PMID: 8954778
187 results