Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

@article{Hentschel2016IdentificationOT,
  title={Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.},
  author={J. Hentschel and Dana Tatun and D. Parkhomchuk and I. Kurth and B. Schimmel and R. Heinrich-Weltzien and Sabine Bertzbach and H. Peters and C. Beetz},
  journal={Gene},
  year={2016},
  volume={590 1},
  pages={
          1-4
        }
}
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous disorder of tooth development which is due to aberrant deposition or composition of enamel. Both syndromic and isolated forms exist; they may be inherited in an X-linked, autosomal recessive, or autosomal dominant manner. WDR72 is one of ten currently known genes for recessive isolated AI; nine WDR72 mutations affecting single nucleotides have been described to date. Based on whole exome sequencing in a large… Expand

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