https://pubmed.ncbi.nlm.nih.gov/33674768/
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A...
We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant...
sex differencesphenotype correlationclinicaldelineation
https://www.jci.org/articles/view/126250
JCI - The X-linked histone demethylase Kdm6a in CD4+ T lymphocytes modulates autoimmunity