ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers

  title={ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers},
  author={Phatchara Norbnop and C. Srichomthong and K. Suphapeetiporn and V. Shotelersuk},
  journal={Journal of Human Genetics},
  • Phatchara Norbnop, C. Srichomthong, +1 author V. Shotelersuk
  • Published 2014
  • Biology, Medicine
  • Journal of Human Genetics
  • Werner mesomelic syndrome (WMS), an autosomal dominant disorder characterized by hypoplastic tibiae, triphalangeal thumbs and polydactyly, is caused by a specific point mutation at the position 404 in zone of polarizing activity regulatory sequence (ZRS). Here we identified two additional families with WMS. All three patients in three generations of Family 1 were found to harbor the same heterozygous 406A>G mutation in ZRS. The fourth patient from Family 2 was a sporadic case with the known 404… CONTINUE READING
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