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Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

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Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

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dc.contributor.author Tallón Walton, Victòria es
dc.contributor.author Manzanares Céspedes, María Cristina es
dc.contributor.author Carvalho Lobato, P. es
dc.contributor.author Valdivia Gandur, Ivan es
dc.contributor.author Arte, Sirpa es
dc.contributor.author Nieminen, Pekka es
dc.date.accessioned 2014-07-04T07:55:20Z
dc.date.available 2014-07-04T07:55:20Z
dc.date.issued 2014 es
dc.identifier.citation Tallón Walton, Victòria ; Manzanares Céspedes, María Cristina ; Carvalho Lobato, P. ; Valdivia Gandur, Ivan ; Arte, Sirpa ; Nieminen, Pekka. Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2014, Vol. 19, No. 3: 248-254 es
dc.identifier.uri http://hdl.handle.net/10550/36881
dc.description.abstract Objectives: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. Study Design: Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and muta - tional screening for PAX9 and MSX1 were carried out. Results: No mutations were discovered despite the fact that numerous teeth were missing. An important pheno - typical variability was observed within the probands, not being possible to establish a parallelism with the pat - terns associated to previously described PAX9 and MSX1 mutations. Conclusions: These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies. en_US
dc.subject Odontología es
dc.subject Ciencias de la salud es
dc.title Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review es
dc.type journal article es_ES
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.type.hasVersion VoR es_ES
dc.identifier.url http://www.medicinaoral.com/pubmed/medoralv19_i3_p248.pdf es

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