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Fardaei, Majid, Ghaderi, Faezeh, Hekmat, Somaye, Ghaderi, Reza. (1392). MSX1 Mutation in Witkop Syndrome; A Case Report. سامانه مدیریت نشریات علمی, 38(June Supplement 2013), 191-194.
Majid Fardaei; Faezeh Ghaderi; Somaye Hekmat; Reza Ghaderi. "MSX1 Mutation in Witkop Syndrome; A Case Report". سامانه مدیریت نشریات علمی, 38, June Supplement 2013, 1392, 191-194.
Fardaei, Majid, Ghaderi, Faezeh, Hekmat, Somaye, Ghaderi, Reza. (1392). 'MSX1 Mutation in Witkop Syndrome; A Case Report', سامانه مدیریت نشریات علمی, 38(June Supplement 2013), pp. 191-194.
Fardaei, Majid, Ghaderi, Faezeh, Hekmat, Somaye, Ghaderi, Reza. MSX1 Mutation in Witkop Syndrome; A Case Report. سامانه مدیریت نشریات علمی, 1392; 38(June Supplement 2013): 191-194.

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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