Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

@article{Shamseldin2012IdentificationOA,
  title={Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.},
  author={Hanan E Shamseldin and Maha A Faden and Walid Alashram and Fowzan S Alkuraya},
  journal={Journal of medical genetics},
  year={2012},
  volume={49 1},
  pages={16-20}
}
BACKGROUND Split hand and foot malformation (SHFM) refers to a genetically heterogeneous developmental disorder of the hands and feet that presents as median ray deficiency of varying severity. 7q21.3 (SHFM1) is one of six loci described to date, and although DLX5 and DLX6 are compelling candidates in that locus, no intragenic mutations have been described in either of these genes. METHODS The authors combined autozygome analysis and exome sequencing to study a consanguineous family with a… CONTINUE READING
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