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Molecular Analysis Of Split Hand/Foot Malformation (Shfm) At The Shfm3 And Shfm5 Loci, Megan Chryst-Ladd
Molecular Analysis Of Split Hand/Foot Malformation (Shfm) At The Shfm3 And Shfm5 Loci, Megan Chryst-Ladd
All Theses
Split hand/foot malformation (SHFM) is a congenital limb malformation observed in humans characterized by a reduction or loss of the central digits of the hands and/or feet. The condition affects one in every 8,500 to 25,000 births, accounting for 8-17% of all limb reduction defects. A tandem duplication of approximately 500 Kb has been determined to be the causative mutation at the SHFM3 locus. Patients that are heterozygous for this duplication have three copies of the genes BTRC, POLL, and DPCD as well as an extra copy of exons 6-9 of FBXW4. The SHFM3 critical region also contains the FGF8 …