Title of article
MSX1 Mutation in Witkop Syndrome; A Case Report
Author/Authors
Ghaderi, Faezeh shiraz university of medical sciences - School of Dentistry - Department of Pediatric Dentistry, ايران , Hekmat, Somaye shiraz university of medical sciences - School of Dentistry - Department of Pediatric Dentistry, ايران , Ghaderi, Reza birjand university of medical sciences - School of Medicine - Department of Dermatology, ايران , Fardaei, Majid shiraz university of medical sciences - School of Medicine - Department of Genetics, ايران
From page
191
To page
194
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.
Keywords
Witkop syndrome . MSX1 . Nail dysplasia
Journal title
Iranian Journal of Medical Sciences (IJMS)
Journal title
Iranian Journal of Medical Sciences (IJMS)
Record number
2671489
Link To Document