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Article

A nomenclature for X-linked amelogenesis imperfecta.

Archives of oral biology - 1 Apr 2002

Hart P S, Hart T C, Simmer J P, Wright J T

Abstract excerpt

Mutations of the X-chromosome amelogenin gene (AMELX) are associated with amelogenesis imperfecta (AI) phenotypes (OMIM no. 301200). Currently, 12 different AMELX mutations have been identified in individuals with abnormal enamel characteristic of AI. A notable feature of AI is the variable clinical phenotype, spurring interest in genotype-phenotype correlations. It is important that researchers and clinicians...

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Source

Identifiers

PMID: 11922868
DOI: 10.1016/s0003-9969(02)00005-5

Genes

AMELX

Provenance

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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