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Items: 4

1.
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form
Julia E. VanderMeer, Reymundo Lozano, Miao Sun, Yuan Xue, Donna Daentl, Ethylin Wang Jabs, William R. Wilcox, Nadav Ahituv
Hum Mutat. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Hum Mutat. 2014 Aug; 35(8): 945–948. Published online 2014 Jun 3. doi: 10.1002/humu.22581
PMCID:
PMC4110103
AbstractArticlePDF–282K
2.
A Novel ZRS Mutation in a Balochi Tribal Family with Triphalangeal Thumb, Pre-axial Polydactyly, Postaxial Polydactyly and Syndactyly
Julia E VanderMeer, Muhammad Afzal, Saadia Alyas, Sayedul Haque, Nadav Ahituv, Sajid Malik
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 158A(8): 2031–2035. Published online 2012 Jul 11. doi: 10.1002/ajmg.a.35473
PMCID:
PMC3402602
AbstractArticlePDF–1.6M
3.
A novel acropectoral syndrome maps to chromosome 7q36
M. Dundar, T. Gordon, I. Ozyazgan, F. Oguzkaya, Y. Ozkul, A. Cooke, A Wilkinson, S. Holloway, F. Goodman, J. Tolmie
J Med Genet. 2001 May; 38(5): 304–309. doi: 10.1136/jmg.38.5.304
PMCID:
PMC1734869
SummaryPDF–238K
4.
Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene
P. Ianakiev, M. J. van Baren, M. J. Daly, S. P. A. Toledo, M. G. Cavalcanti, J. Correa Neto, E. Lemos Silveira, A. Freire-Maia, P. Heutink, M. W. Kilpatrick, P. Tsipouras
Am J Hum Genet. 2001 Jan; 68(1): 38–45. Published online 2000 Nov 22. doi: 10.1086/316955
PMCID:
PMC1234933
AbstractArticlePDF–541K

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