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A Novel Neurodevelopmental Disorder

Mohammed A. AlMuhaizea et al.
January 31, 2020

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder. This finding, which is partially based on observations made at CENTOGENE, was published in the highly respected journal Acta Neuropathologica.