Genetic testing for AMELX is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amelogenesis imperfecta type 1E has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for amelogenesis imperfecta type 1E.

14 publications have been identified in PubMed for amelogenesis imperfecta type 1E. Research spans Basic Science / Preclinical (71%), Case Report / Case Series (21%), and Diagnostic / Biomarker (7%).

Recent Publications

• Mohamed FF (2026). [PMID: 41496794](https://pubmed.ncbi.nlm.nih.gov/41496794/). *JBMR Plus*. [Basic Science / Preclinical]

• Shemirani R (2026). [PMID: 41735490](https://pubmed.ncbi.nlm.nih.gov/41735490/). *Sci Rep*. [Basic Science / Preclinical]

• Cho ES (2026). [PMID: 41791263](https://pubmed.ncbi.nlm.nih.gov/41791263/). *Arch Oral Biol*. [Basic Science / Preclinical]

• Ullah S (2026). [PMID: 40108106](https://pubmed.ncbi.nlm.nih.gov/40108106/). *Biochem Genet*. [Basic Science / Preclinical]

• Dixit D (2025). [PMID: 39875150](https://pubmed.ncbi.nlm.nih.gov/39875150/). *BMJ Case Rep*. [Case Report / Case Series]

• Camacho-Escalera C (2025). [PMID: 40712386](https://pubmed.ncbi.nlm.nih.gov/40712386/). *Int Dent J*. [Basic Science / Preclinical]

• Kamps R (2025). [PMID: 40506835](https://pubmed.ncbi.nlm.nih.gov/40506835/). *Mol Genet Genomic Med*. [Basic Science / Preclinical]

• Lin K (2025). [PMID: 40723411](https://pubmed.ncbi.nlm.nih.gov/40723411/). *Biology (Basel)*. [Basic Science / Preclinical]

• Leban T (2025). [PMID: 40725478](https://pubmed.ncbi.nlm.nih.gov/40725478/). *Genes (Basel)*. [Diagnostic / Biomarker]

• Sharmin N (2025). [PMID: 40569950](https://pubmed.ncbi.nlm.nih.gov/40569950/). *PLoS One*. [Basic Science / Preclinical]