Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations

Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this...

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Bibliographic Details
Main Authors: Hu, J.C.C (Author), Hyun, H.K (Author), Kang, J. (Author), Kasimoglu, Y. (Author), Kim, J.W (Author), Kim, Y.J (Author), Koruyucu, M. (Author), Lee, S.H (Author), Lee, Z.H (Author), Seymen, F. (Author), Shin, T.J (Author), Simmer, J.P (Author)
Format: Article
Language:English
Published: SAGE Publications Inc. 2018
Subjects:
amelogenesis imperfecta
Amelogenesis Imperfecta
case report
child
Child
consanguinity
Consanguinity
ENAM protein, human
enamel
enamelin
Extracellular Matrix Proteins
female
Female
genetics
human
Humans
mutation
Mutation
pedigree
Pedigree
penetrance
phenotype
Phenotype
polymerase chain reaction
Polymerase Chain Reaction
scleroprotein
tooth
Turkey
turkey (bird)
whole exome sequencing
Whole Exome Sequencing
young adult
Young Adult
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