MSX1 Mutation in Witkop Syndrome; A Case Report

Authors

  • Faezeh Ghaderi Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran
  • Majid Fardaei Department of Genetics, School of Medicine, Shiraz University of Medical Sciences
  • Reza Ghaderi Department of Dermatology, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran
  • Somaye Hekmat Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran
Abstract:

The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies.

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Journal title

volume 38  issue June Supplement 2013

pages  191- 194

publication date 2013-06-01

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