Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders
Meilin Chen, Yingting Quan, Guiqin Duan, Huidan Wu, Ting Bai, Yazhe Wang, Shimin Zhou, Jianjun Ou, Yidong Shen, Zhengmao Hu, Kun Xia, Hui Guo
Topics & Concepts
MacrocephalyGeneticsMissense mutationPhenotypeBiologyIntellectual disabilityAutismGenotypeGeneMedicinePsychiatryGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities