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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.
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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  Data: De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
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  Data: <searchLink fieldCode="AU" term="%22Ward+SK%22">Ward SK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wadley+A%22">Wadley A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tsai+CA%22">Tsai CA</searchLink>; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.<br /><searchLink fieldCode="AU" term="%22Benke+PJ%22">Benke PJ</searchLink>; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Emrick+L%22">Emrick L</searchLink>; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Fisher+K%22">Fisher K</searchLink>; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Houck+KM%22">Houck KM</searchLink>; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Dai+H%22">Dai H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Craigen+W%22">Craigen W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Glaser+K%22">Glaser K</searchLink>; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Invitae, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Murdock+DR%22">Murdock DR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rohena+L%22">Rohena L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Diderich+KEM%22">Diderich KEM</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bruggenwirth+HT%22">Bruggenwirth HT</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bacino+C%22">Bacino C</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
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  Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. <i>Date of Electronic Publication: </i>2023 Sep 25.
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        Value: 10.1002/ajmg.a.63399
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