𝔖 Bobbio Scriptorium
✦   LIBER   ✦

CHD2haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

✍ Scribed by Chénier, Sébastien; Yoon, Grace; Argiropoulos, Bob; Lauzon, Julie; Laframboise, Rachel; Ahn, Joo; Ogilvie, Caroline; Lionel, Anath C; Marshall, Christian R; Vaags, Andrea K; Hashemi, Bita; Boisvert, Karine; Mathonnet, Géraldine; Tihy, Frédérique; So, Joyce; Scherer, Stephen W; Lemyre, Emmanuelle; Stavropoulos, Dimitri J

Book ID
125404041
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
260 KB
Volume
6
Category
Article
ISSN
1866-1947

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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