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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204...
Autores principales: | de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071802/ https://www.ncbi.nlm.nih.gov/pubmed/24927635 http://dx.doi.org/10.1186/1750-1172-9-84 |
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