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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson, Simon; Nicolae, Claudia M; Noh, Grace J; Burton, Jennifer E; Punzi, Giuseppe; Shaag, Avraham; Bischetsrieder, Jessica; De Grassi, Anna; Pierri, Ciro Leonardo; Elpeleg, Orly; Moldovan, George-Lucian.
Afiliación
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Nicolae CM; Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA.
  • Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.
  • Burton JE; University of Illinois College of Medicine at Peoria, Illini Drive, Peoria, IL 61605, USA.
  • Punzi G; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Bischetsrieder J; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.
  • De Grassi A; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
  • Pierri CL; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: elpeleg@hadassah.org.il.
  • Moldovan GL; Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address: gmoldovan@pennstatehealth.psu.edu.
Am J Hum Genet ; 104(1): 179-185, 2019 01 03.
Article en En | MEDLINE | ID: mdl-30595371
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Ceguera / Ubiquitina-Proteína Ligasas / Insuficiencia de Crecimiento / Mutación con Ganancia de Función / Heterocigoto / Microcefalia Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Ceguera / Ubiquitina-Proteína Ligasas / Insuficiencia de Crecimiento / Mutación con Ganancia de Función / Heterocigoto / Microcefalia Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article