Corpus ID: 21545489

Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).

@article{Kang2004MolecularGC,
  title={Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).},
  author={Y. S. Kang and H. Cheong and Y. Moon and Il Bum Lee and S. M. Kim and H. S. Kim and Soo Youn Jun and S. K. Jung and J. Kim and J. H. Choi and H. Cho and J. S. Son and N. Y. Min and K. Lee},
  journal={Molecules and cells},
  year={2004},
  volume={17 3},
  pages={
          397-403
        }
}
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31). In this study, we attempted to identify and localize the causative allele of a Korean case of SHFM. Pedigree analysis showed that the Korean SHFM was autosomally dominant and its penetrance was high, indicating that it was not caused by SHFM2. Clinical features were variable, but limited to… Expand
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