Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation
نویسندگان
چکیده
منابع مشابه
A novel mutation in human PAX9 causes molar oligodontia.
Experimental and animal studies, as well as genetic mutations in man, have indicated that the development of dentition is under the control of several genes. So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth. We identified a large kindred with several individuals affected with molar oligodontia tha...
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Regional odontodysplasia (RO) is a rare developmental dental anomaly with an unknown etiology. It is more often seen in girls than boys. Treatment of RO depends on the individual case. The aims of treatment should include aiding mastication and speech, improving aesthetics, reducing the psychological impact of the anomaly, allowing normal jaw growth and development, and if possible protection o...
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PURPOSE To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract. METHODS Genomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cerulean cataract in the family. RESULTS Initially, sequencing analysis of the three genes (beta-B...
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Regional odontodysplasia (RO) is a rare developmental anomaly involving both mesodermal and ectodermal dental components in a group of contiguous teeth. It affects the primary and permanent dentitions in the maxilla and mandible or both jaws. Generally it is localized in only one arch. The etiology of this dental anomaly is uncertain. Clinically, affected teeth have an abnormal morphology, are ...
متن کاملRegional Odontodysplasia: an Overeview
Regional odontodysplasia is a rare developmental anomaly involving dental tissues. The precise etiology is not yet known. The affected teeth are usually small with atypical morphology with yellow or brown discoloration. One hundred and seventy six cases of regional odontodysplasia have been published to-date. Analysis of the published cases shows that the age at the time of diagnosis ranges fro...
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ژورنال
عنوان ژورنال: Clinical Oral Investigations
سال: 2019
ISSN: 1432-6981,1436-3771
DOI: 10.1007/s00784-019-02849-5