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@ARTICLE{Synofzik:137248,
      author       = {Synofzik, Matthis and Bernard, Geneviève and Lindig,
                      Tobias and Gburek-Augustat, Janina},
      title        = {{T}eaching neuroimages: hypomyelinating leukodystrophy with
                      hypodontia due to {POLR}3{B}: look into a leukodystrophy's
                      mouth.},
      journal      = {Neurology},
      volume       = {81},
      number       = {19},
      issn         = {0028-3878},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DZNE-2020-03570},
      pages        = {e145-e145},
      year         = {2013},
      abstract     = {An 18-year-old German woman presented with progressive
                      cerebellar ataxia since early childhood, delayed cognitive
                      development, and hypogonadotropic hypogonadism. MRI
                      demonstrated diffuse cerebral hypomyelination, cerebellar
                      atrophy, and thin corpus callosum; X-ray revealed persistent
                      milk teeth and hypoplastic crowns and roots (figure),
                      indicative of 4H syndrome (hypomyelination, hypodontia,
                      hypogonadotropic hypogonadism). POLR3B sequencing(1)
                      revealed 2 compound heterozygous mutations (C527R
                      [C.1579T>C] and the common ancestral V523E [C.1568T>A](2)).},
      subtyp        = {Editorial},
      keywords     = {Adolescent / Anodontia: complications / Anodontia: genetics
                      / Anodontia: pathology / Female / Hereditary Central Nervous
                      System Demyelinating Diseases: complications / Hereditary
                      Central Nervous System Demyelinating Diseases: genetics /
                      Hereditary Central Nervous System Demyelinating Diseases:
                      pathology / Humans / Magnetic Resonance Imaging / Mouth:
                      pathology / RNA Polymerase III: genetics / POLR3B protein,
                      human (NLM Chemicals) / RNA Polymerase III (NLM Chemicals)},
      cin          = {AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24190003},
      pmc          = {pmc:PMC3812106},
      doi          = {10.1212/01.wnl.0000435300.64776.7e},
      url          = {https://pub.dzne.de/record/137248},
}