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Features include: Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, and Yellow-brown discoloration of the teeth.
RELT function has not been fully characterized.
Amelogenesis imperfecta, type 3C is associated with mutations in the RELT gene on chromosome 11.
Genetic testing for RELT is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for amelogenesis imperfecta, type 3C.
2 publications have been identified in PubMed for amelogenesis imperfecta, type 3C. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Zhu J (2026). [PMID: 41554697](https://pubmed.ncbi.nlm.nih.gov/41554697/). *International journal of oral science*. [Review / Meta-Analysis]
Zhang Z (2025). [PMID: 39856501](https://pubmed.ncbi.nlm.nih.gov/39856501/). *Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC
Online Mendelian Inheritance in Man