A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
Abstract Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes.We identified a consanguineous family of Saudi origin with varying complex features Satellite Coffee Servers including intellectual disability, speech d