FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)

Enamel-renal syndrome (ERS) is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis...

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Detalles Bibliográficos
Autores principales: Wang, Shih-Kai, Aref, Parissa, Hu, Yuanyuan, Milkovich, Rachel N., Simmer, James P., El-Khateeb, Mohammad, Daggag, Hinda, Baqain, Zaid H., Hu, Jan C-C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585120/
https://www.ncbi.nlm.nih.gov/pubmed/23468644
http://dx.doi.org/10.1371/journal.pgen.1003302

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