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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik; Foreman, Michelle; Hurtig, Jennifer E; Enyenihi, Liz; Sterrett, Maria C; Leung, Sara W; Schneidman-Duhovny, Dina; Estrada-Veras, Juvianee; Duncan, Jacque L; Haaxma, Charlotte A; Kamsteeg, Erik-Jan; Xia, Vivian; Beleford, Daniah; Si, Yue; Douglas, Ganka; Treidene, Hans Einar; van Hoof, Ambro; Fasken, Milo B; Corbett, Anita H.
Afiliación
  • Slavotinek A; Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
  • Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway.
  • Htun S; Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
  • Mathisen L; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway.
  • Foreman M; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA.
  • Hurtig JE; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA.
  • Enyenihi L; Department of Biology, Emory University, Atlanta, GA 30322, USA.
  • Sterrett MC; Department of Biology, Emory University, Atlanta, GA 30322, USA.
  • Leung SW; Department of Biology, Emory University, Atlanta, GA 30322, USA.
  • Schneidman-Duhovny D; School of Computer Science and Engineering and the Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
  • Estrada-Veras J; Department of Pediatrics-Medical Genetics and Metabolism, Uniformed Services University/Walter Reed NMMC Bethesda, MD 20889, USA.
  • Duncan JL; Department of Ophthalmology, University of California, San Francisco, CA 94143, USA.
  • Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands.
  • Xia V; Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
  • Beleford D; Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
  • Si Y; GeneDx Inc., MD 20877, USA.
  • Douglas G; GeneDx Inc., MD 20877, USA.
  • Treidene HE; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo 0450, Norway.
  • van Hoof A; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA.
  • Fasken MB; Department of Biology, Emory University, Atlanta, GA 30322, USA.
  • Corbett AH; Department of Biology, Emory University, Atlanta, GA 30322, USA.
Hum Mol Genet ; 29(13): 2218-2239, 2020 08 03.
Article en En | MEDLINE | ID: mdl-32504085
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Proteínas de Unión al ARN / Enanismo / Complejo Multienzimático de Ribonucleasas del Exosoma / Antígenos de Neoplasias / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Proteínas de Unión al ARN / Enanismo / Complejo Multienzimático de Ribonucleasas del Exosoma / Antígenos de Neoplasias / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article