🧪🧠👩🔬 Hey, check it out! New research from our lab with lots of collaborators! We found a new genetic cause of common neurodevelopmental syndromes (thin corpus callosum, developmental delay and seizures) and explain why they happen!
The American Journal of Human Genetics📣New from @marthabhattacharya.bsky.social & co! 📄Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling