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Article

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.

International journal of molecular sciences - 1 Jun 2024

Wang Shih-Kai, Zhang Hong, Lin Hua-Chieh, Wang Yin-Lin, Lin Shu-Chun, Seymen Figen, Koruyucu Mine, Simmer James P, Hu Jan C-C

Abstract excerpt

AMELX mutations cause X-linked amelogenesis imperfecta (AI), known as AI types IE, IIB, and IIC in Witkop's classification, characterized by hypoplastic (reduced thickness) and/or hypomaturation (reduced hardness) enamel defects. In this study, we conducted whole exome analyses to unravel the disease-causing mutations for six AI families. Splicing assays, immunoblotting, and quantitative RT-PCR were conducted to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38892321
DOI: 10.3390/ijms25116132
PMCID: PMC11172428

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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