Mutations in RELT cause autosomal recessive amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a collection of isolated (non‐syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that per...

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Vydáno v:Clin Genet
Hlavní autoři: Kim, Jung‐Wook, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Hu, Yuanyuan, Kang, Jenny, Kim, Youn J., Ikeda, Atsushi, Kasimoglu, Yelda, Bayram, Merve, Zhang, Chuhua, Kawasaki, Kazuhiko, Bartlett, John D., Saunders, Thomas L., Simmer, James P., Hu, Jan C‐C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2018
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6392136/
https://ncbi.nlm.nih.gov/pubmed/30506946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13487
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