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Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome

Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in FAM20A (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, intrapulpal calcifications, gingiv...

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Detalles Bibliográficos
Autores principales: Simancas Escorcia, Victor, Diarra, Abdoulaziz, Naveau, Adrien, Dessombz, Arnaud, Felizardo, Rufino, Cannaya, Vidjeacoumary, Chatziantoniou, Christos, Quentric, Mickaël, Vikkula, Miikka, Cases, Olivier, Berdal, Ariane, De La Dure-Molla, Muriel, Kozyraki, Renata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793853/
https://www.ncbi.nlm.nih.gov/pubmed/33425910
http://dx.doi.org/10.3389/fcell.2020.605084