Clinical study of two brothers with a novel 33 bp duplication in the ARX gene

A novel de novo 27 bp duplication of the

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

✍ Orit Reish; Tod Fullston; Miriam Regev; Eli Heyman; Jozef Gecz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB

## Abstract The __Aristaless__ Related Homeobox (__ARX__) gene is a Q~50~ paired homeobox gene. These genes are important regulators of essential events during vertebrate embryogenesis, including the development of the central and peripheral nervous system. Mutations in __ARX__ have been identified