Scientific Publication 

The First Missense Pathogenic Variant in the KAT6A Gene

Author(s): Trinh, Joanne, Phd, Hüning, Irina, MD, Yüksel, Zafer, MD, Baalmann, N, Imhoff, S, Klein, Prof. Christine, MD, Rolfs, Prof. Arndt, MD, Gillessen-Kaesbach, Prof. Gabriele, MD, Lohmann, Katja, PhD

CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”

CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”


Read publication