Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene

Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phe...

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Detalles Bibliográficos
Autores principales: Luder, Hans U., Gerth-Kahlert, Christina, Ostertag-Benzinger, Silke, Schorderet, Daniel F.
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/PMC3806830/
https://www.ncbi.nlm.nih.gov/pubmed/24194943
http://dx.doi.org/10.1371/journal.pone.0078529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806830/
https://www.ncbi.nlm.nih.gov/pubmed/24194943
http://dx.doi.org/10.1371/journal.pone.0078529

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