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MSX1 Mutation in Witkop Syndrome; A Case Report | ||
| Iranian Journal of Medical Sciences | ||
| مقاله 9، دوره 38، June Supplement 2013، فروردین 2013، صفحه 191-194 اصل مقاله (349.48 K) | ||
| نوع مقاله: Case Report(s) | ||
| نویسندگان | ||
| Majid Fardaei* 1؛ Faezeh Ghaderi2؛ Somaye Hekmat2؛ Reza Ghaderi3 | ||
| 1Department of Genetics, School of Medicine, Shiraz University of Medical Sciences | ||
| 2Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran | ||
| 3Department of Dermatology, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| Witkop syndrome؛ MSX1؛ Nail dysplasia | ||
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آمار تعداد مشاهده مقاله: 3,248 تعداد دریافت فایل اصل مقاله: 1,411 |
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