A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
Weiqian Dai, Yu Sun, Yanjie Fan, Yan Gao, Yongkun Zhan, Lili Wang, Bing Xiao, Wenjuan Qiu, Xuefan Gu, Kun Sun, Yongguo Yu, Na Xu
Topics & Concepts
CohortMicrodeletion syndromeMedicineHaploinsufficiencyIntellectual disabilityGeneticsMedical geneticsFrameshift mutationCopy-number variationPediatricsPhenotypeInternal medicineGeneBiologyPsychiatryGenomePolyomavirus and related diseasesTumors and Oncological CasesBacteriophages and microbial interactions