De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
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| Title: | De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. |
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| Authors: | Ward SK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Wadley A; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Tsai CA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Emrick L; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Fisher K; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Glaser K; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Invitae, San Francisco, California, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; The University of Texas Health Science Center at Houston, Houston, Texas, USA., Rohena L; Department of Pediatrics, Division of Medical Genetics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA. |
| Corporate Authors: | Undiagnosed Diseases Network |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. Date of Electronic Publication: 2023 Sep 25. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63399 |
