Phenotype of ST3GAL3 deficient patients: A case and review of the literature
Hossein Jafari Khamirani, Sina Zoghi, Fatemeh Faghihi, Seyed Alireza Dastgheib, Hamidreza Hassanipour, Kaoru Tabei, Sanaz Mohammadi, Marjan Masoudi, Shiva Poorang, Elham Ehsani, Mehdi Dianatpour
Topics & Concepts
Intellectual disabilityPhenotypeMutationEpilepsySplice site mutationMedicineGeneticsPediatricsGeneBiologyRNA splicingPsychiatryRNAGlycosylation and Glycoproteins ResearchGenomic variations and chromosomal abnormalitiesRNA and protein synthesis mechanisms