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您的检索式：作者名="James P.Simmer"
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| 1 | Analyses of oligodontia phenotypes and genetic etiologies显示文摘Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis.Many genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical presentation.The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients.An online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation,phenotype description,and radiographic records.Additionally,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses.We identified a novel mutation in WNT10A(c.99_105dup)and eight previously reported mutations in WNT10A(c.433 G>A;c.682 T>A;c.318 C>G;c.511.C>T;c.321 C>A),EDAR(c.581 C>T),and LRP6(c.1003 C>T,c.2747 G>T).Collectively,20 different causative genes were implicated among those 393 cases with oligodontia.For each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated.Genotype–phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations,mandibular first premolar agenesis is least associated with PAX9 mutations. | Mengqi Zhou Hong Zhang Heather Camhi Figen Seymen Mine Koruyucu Yelda Kasimoglu Jung-Wook Kim Hera Kim-Berman Ninna M.R.Yuson Paul J.Benke Yiqun Wu Feng Wang Yaqin Zhu James P.Simmer Jan C-C.Hu | 2021 | International Journal of Oral Science2021，13，3： | 5 |
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