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Article

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.

American journal of medical genetics. Part A - 1 Mar 2005

Dong Juan, Amor David, Aldred Michael J, Gu TingTing, Escamilla Michael, MacDougall Mary

Abstract excerpt

Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is an autosomal dominant (AD) trait associated with enamel defects and enlarged pulp chambers. In this study, we mapped an AIHHT family to human chromosome 17 q21-q22 (lod score 3.3) and identify a two basepair deletion (CT) at nucleotide 560 in DLX3 associated with the disease. This mutation causes a frameshift altering the last two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15666299
DOI: 10.1002/ajmg.a.30521

Genes

DLX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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