IMPE Abstracts

Objective: To analyze the clinical manifestations and genetic characteristics of X-linked intellectual disability (XLID). Methods: The clinical data of a boy with XLID were retrospectively analyzed. The Clinical and gene mutation characteristics of XLID were summarized by a literature review. The whole exome-sequencing test was used to analyze the gene mutation. The pathogenicity of novel mutations was analyzed and the changes of protein function resulted from...