Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

• Teresa Romeo Luperchio,
• Carolyn D. Applegate,
• Olaf Bodamer,
• Hans Tomas Bjornsson

Affiliations

Teresa Romeo Luperchio

McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA

Carolyn D. Applegate

McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA

Olaf Bodamer

Division of Genetics and Genomics Department of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA

Hans Tomas Bjornsson

McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA