FAM20A mutations associated with enamel renal syndrome.

@article{Wang2014FAM20AMA,
  title={FAM20A mutations associated with enamel renal syndrome.},
  author={Shu Kun Wang and Bryan Michael Reid and Sarah L. Dugan and Jennifer Roggenbuck and Libby Read and Parissa Aref and Amir Pejman Hashemi Taheri and Marjan Zarif Yeganeh and James P Simmer and Jan C.-C. Hu},
  journal={Journal of dental research},
  year={2014},
  volume={93 1},
  pages={
          42-8
        }
}
We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The… CONTINUE READING
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FAM20B is a kinase

  • T Koike, T Izumikawa, J Tamura, H Kitagawa
  • 2009
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