首页> Frontiers in neurology> Case report: Compound heterozygous <i>NUP85</i> variants cause autosomal recessive primary microcephaly.

Case report: Compound heterozygous <i>NUP85</i> variants cause autosomal recessive primary microcephaly.

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第一作者： Ethiraj,Ravindran

第一单位： Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.

作者： Ethiraj,Ravindran ^[1] ; Gaetan,Lesca ^[2] ; Louis,Januel ^[3] ; Linus,Goldgruber ^[4] ; Achim,Dickmanns ^[5] ; Henri,Margot ^[6] ; Angela M,Kaindl ^[1]

作者单位： Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany. ^[1] Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.;Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France. ^[2] Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France. ^[3] Department of Biomedical Engineering, Veterinärmedizinische Universität (Vetmeduni), Vienna, Austria. ^[4] Department of Molecular Structural Biology, Institute for Microbiology and Genetics (GZMB), Georg-August-University Göttingen, Göttingen, Germany. ^[5] Department of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France. ^[6]

关键词 MCPH-SCKS NUP85 brain development microcephaly speech disorder

DOI 10.3389/fneur.2023.1124886

PMID 36846113

发布时间 2023-02-28

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