Your browser doesn't support javascript.
loading
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Andrews, Jonathan C; Mok, Jung-Wan; Kanca, Oguz; Jangam, Sharayu; Tifft, Cynthia; Macnamara, Ellen F; Russell, Bianca E; Wang, Lee-Kai; Nelson, Stanley F; Bellen, Hugo J; Yamamoto, Shinya; Malicdan, May Christine V; Wangler, Michael F.
Afiliación
  • Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX.
  • Mok JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX.
  • Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX.
  • Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX.
  • Tifft C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Macnamara EF; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Russell BE; Division of Genetics, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.
  • Wang LK; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.
  • Nelson SF; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX.
  • Malicdan MCV; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address: maychristine.malicdan@nih.gov.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Houston, TX. Electronic address: mw147467@bcm.edu.
Genet Med ; 25(6): 100833, 2023 06.
Article en En | MEDLINE | ID: mdl-37013900
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos