Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

6 Patients with PTVs tended to have more intellectual disability (97.6% versus 80%, p = 0.052) and higher frequency of central nervous system (CNS) anomalies (71.4% versus 28.6%, p = 0.076), although the difference did not reach statistical significance.

also in 111,027 other papers