A case of X-linked intellectual disability caused by HUWE1 gene mutation combined with KDM5C gene mutation

Liu Qing; Chen Bo; Liu Chang

doi:10.3969/j.issn.1671-6450.2024.04.020

Home>Articles>A case of X-linked intellectual disability caused by HUWE1 gene mutation combined with KDM5C gene mutation

DOI: 10.3969/j.issn.1671-6450.2024.04.020

A case of X-linked intellectual disability caused by HUWE1 gene mutation combined with KDM5C gene mutation

Liu Qing

Chen Bo

Liu Chang

Abstract：Report the clinical data of a patient with X-linked intellectual disability caused by a HUWE1 gene muta-tion combined with a KDM5C gene mutation,and review the literature.

Keywords：X-linked intellectual disabilityHUWE1 geneKDM5C geneGenetic variationDiagnosisTreatment

Publication Date：2024-04-18

Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)

Pages：3( 489-490,495 )

Chinese Journal of Difficult and Complicated Cases

ISTIC

ISSN：1671-6450

Year, Vol.(Issue)：2024,23(4)