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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward, Scott K; Wadley, Alexandrea; Tsai, Chun-Hui Anne; Benke, Paul J; Emrick, Lisa; Fisher, Kristen; Houck, Kimberly M; Dai, Hongzheng; Guillen Sacoto, Maria J; Craigen, William; Glaser, Kimberly; Murdock, David R; Rohena, Luis; Diderich, Karin E M; Bruggenwirth, Hennie T; Lee, Brendan; Bacino, Carlos; Burrage, Lindsay C; Rosenfeld, Jill A.
Afiliación
  • Ward SK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Wadley A; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Tsai CA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
  • Benke PJ; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Emrick L; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
  • Fisher K; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Dai H; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Guillen Sacoto MJ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Glaser K; GeneDx, Gaithersburg, Maryland, USA.
  • Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Rohena L; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Diderich KEM; Invitae, San Francisco, California, USA.
  • Bruggenwirth HT; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Lee B; The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Bacino C; Department of Pediatrics, Division of Medical Genetics, San Antonio Military Medical Center, San Antonio, Texas, USA.
  • Burrage LC; Department of Pediatrics, Long School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.
  • Rosenfeld JA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Am J Med Genet A ; 194(1): 17-30, 2024 Jan.
Article en En | MEDLINE | ID: mdl-37743782
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual / Trastornos del Movimiento Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual / Trastornos del Movimiento Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos