NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

Haploinsufficiency of SOX5 at 12p12.1 is

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

✍ Allen N. Lamb; Jill A. Rosenfeld; Nicholas J. Neill; Michael E. Talkowski; Ian B 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint with