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Article

DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.

American journal of medical genetics. Part A - 1 Feb 2008

Wright J Timothy, Hong Sung P, Simmons Darrin, Daly Bill, Uebelhart Daniel, Luder Hans U

Abstract excerpt

The distal-less homeobox gene DLX3 is expressed in a variety of tissues including placenta, skin, hair, teeth, and bone. Mutation of DLX3 (c.571_574delGGGG) causes the tricho-dento-osseous syndrome (TDO), characterized by abnormal hair, teeth, and bone. Evaluation of a kindred segregating the DLX3 c.561_562delCT mutation revealed distinct changes in the hair, teeth, and bones as has been observed with the DLX3...

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Source

Identifiers

PMID: 18203197
DOI: 10.1002/ajmg.a.32132

Genes

DLX3

Variants

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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DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.PMID 18203197Read ↗

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