✦ LIBER ✦

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

✍ Scribed by J. Timothy Wright; Sung P. Hong; Darrin Simmons; Bill Daly; Daniel Uebelhart; Hans U. Luder

Book ID: 101455186
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 286 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32132

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Increased bone density associated with D

Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome

✍ Ryan J. Haldeman; Lyndon F. Cooper; Thomas C. Hart; Ceib Phillips; Courtney Boyd 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 312 KB

Analysis of the tricho-dento-osseous syn

Analysis of the tricho-dento-osseous syndrome genotype and phenotype

✍ Tim Wright, J.; Kula, Katherine; Hall, Kathie; Simmons, Joey H.; Hart, Thomas C. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 3 views

The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for

A dominant mutation etiologic for human

A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α

✍ Antonella Di Costanzo; Luisa Festa; Giuseppina Roscigno; Maria Vivo; Alessandra 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 692 KB

## Abstract The homeodomain transcription factors play crucial roles in many developmental processes ranging from organization of the body plan to differentiation of individual tissues. The homeodomain protein Distal‐less‐3 (DLX3) has an essential role in epidermal stratification and development of