4.6 Article

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

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro et al.

HUMAN MOLECULAR GENETICS (2018)