Tricho-dento-osseous syndrome

Definition:

Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone.

References:

[1]. J Timothy Wright, et al. DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet A. 2008 Feb 1;146A(3):343-9. [Content Brief]

[2]. Olivier Duverger, et al. Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome. J Biol Chem. 2008 Jul 18;283(29):20198-208. [Content Brief]

[3]. Ryan J Haldeman, et al. Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome. Bone. 2004 Oct;35(4):988-97. [Content Brief]

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