Genetics in Medicine Open (Jan 2023)
P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities
- Scott Ward,
- Lindsay Burrage,
- Jill Rosenfeld,
- Carlos Bacino,
- Brendan Lee,
- William Craigen,
- Lisa Emrick,
- Kristen Fisher,
- Alexandrea Wadley,
- Chun-Hui Tsai,
- Paul Benke,
- Maria Guillen Sacoto,
- Kimberly Glaser,
- David Murdock,
- Luis Rohena,
- K.E.M. Diderich,
- H.T. Bruggenwirth,
- Kimberly Houck
Affiliations
- Scott Ward
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Lindsay Burrage
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Jill Rosenfeld
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Carlos Bacino
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Brendan Lee
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- William Craigen
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Lisa Emrick
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Kristen Fisher
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Alexandrea Wadley
- University of Oklahoma Health Sciences Center, Department of Pediatrics, Section of Genetics, OK
- Chun-Hui Tsai
- University of Oklahoma Health Sciences Center, Department of Pediatrics, Section of Genetics, OK
- Paul Benke
- Joe DiMaggio Children’s Hospital, Hollywood, FL
- Maria Guillen Sacoto
- GeneDx, Gaithersburg, MD
- Kimberly Glaser
- Joe DiMaggio Children’s Hospital, Hollywood, FL
- David Murdock
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Luis Rohena
- Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, TX
- K.E.M. Diderich
- Erasmus MC University Medical Center, Department of Clinical Genetics, Rotterdam, The Netherlands
- H.T. Bruggenwirth
- Erasmus MC University Medical Center, Department of Clinical Genetics, Rotterdam, The Netherlands
- Kimberly Houck
- Baylor College of Medicine, Department of Human and Molecular Genetics, Houston, TX
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100376