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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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3585120/
https://ncbi.nlm.nih.gov/pubmed/23468644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003302
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