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An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
Features include: Amelogenesis imperfecta.
No clinical trials have been registered for X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2.
3 publications have been identified in PubMed for X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).
Marghalani AA (2026). [PMID: 41725193](https://pubmed.ncbi.nlm.nih.gov/41725193/). *Am J Case Rep*. [Case Report / Case Series]
Wang YL (2024). [PMID: 38716742](https://pubmed.ncbi.nlm.nih.gov/38716742/). *J Dent Res*. [Basic Science / Preclinical]
Wang SK (2024). [PMID: 38892321](https://pubmed.ncbi.nlm.nih.gov/38892321/). *Int J Mol Sci*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 10:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
AI-curated news mentioning X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
Updated Mar 2, 2026
Researchers have developed and characterized a murine model for amelogenesis imperfecta, a genetic disorder affecting enamel formation. This model may facilitate future studies on the disease's mechanisms and potential therapies.