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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
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

Internet

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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