Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.

Autor: Abreu NJ; Center for Gene Therapy The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Division of Neurology Nationwide Children's Hospital Columbus Ohio USA., Siemon AE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA., Baylis AL; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA.; Department of Speech and Hearing Science The Ohio State University College of Arts and Sciences Columbus Ohio USA., Kirschner RE; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA., Pfau RB; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Department of Pathology The Ohio State University College of Medicine Columbus Ohio USA., Ho ML; Department of Radiology Nationwide Children's Hospital Columbus Ohio USA.; Department of Radiology The Ohio State University College of Medicine Columbus Ohio USA., Hickey SE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA., Truxal KV; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.

Publikováno v: Clinical case reports [Clin Case Rep] 2022 Feb 11; Vol. 10 (2), pp. e05277. Date of Electronic Publication: 2022 Feb 11 (Print Publication: 2022).