msx1 mutation in witkop syndrome; a case report
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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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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 ...
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Journal title:
iranian journal of medical sciencesجلد ۳۸، شماره ۲، صفحات ۱۹۱-۰
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