Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku…·Martha R. C. Bhattacharya
The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.