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Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. Pogue R, et al. Among authors: ehtesham n. Am J Med Genet A. 2005 Sep 15;138(1):75-8. doi: 10.1002/ajmg.a.30912. Am J Med Genet A. 2005. PMID: 16097008 No abstract available.
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D. Steiner C, et al. Among authors: ehtesham n. J Med Genet. 2004 Apr;41(4):266-9. doi: 10.1136/jmg.2003.012252. J Med Genet. 2004. PMID: 15060099 Free PMC article.
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: ehtesham n. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.
154 results