Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.

@article{Shalimar2007CongenitalIT,
  title={Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.},
  author={Anjali Shalimar and Imran Sharaf and I Farah Wahida and B. H. I. Ruszymah},
  journal={Journal of orthopaedic surgery},
  year={2007},
  volume={15 3},
  pages={
          357-60
        }
}
A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at nucleotide 2209 (approximately 2209G to C) causing a valine to leucine substitution (V709L), and at… CONTINUE READING

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