Original article: MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar ocular craniofacial and genital features (COFG syndrome)

摘要

BackgroundPutative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.