ASH1L mutation caused seizures and intellectual disability in twin sisters
Hailing Liu, De-Tian Liu, Song Lan, Yanlian Yang, Jingjing Huang, Jinbo Huang, Ling Fang
Topics & Concepts
Intellectual disabilityPhenotypeGeneticsMissense mutationExome sequencingAutism spectrum disorderMedicineMutationExonGenotypeAutismGeneBiologyPsychiatryGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersRNA and protein synthesis mechanisms