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

• Published in: Molecular Genetics & Genomic Medicine
• Main Authors: Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Björnsson, Hans Tómas
• Other Authors: Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Landspitali - The National University Hospital of Iceland
• Format: Other/Unknown Material
• Language: English
• Published: 2020
• Subjects: Kabuki heilkenni; Molecular Biology; Genetics; Genetics (clinical); Romeo; Iceland
• Online Access: https://hdl.handle.net/20.500.11815/3371; https://doi.org/10.1002/mgg3.1072

Funding Information: Teresa Romeo Luperchio Carolyn D. Applegate Olaf Bodamer Hans Tomas Bjornsson [e-mail] McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA Division of Genetics and Genomics Department of Pediatrics Boston Children...