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@ARTICLE{Ebner:716285,
      author       = {Ebner, Kathrin and Dafinger, Claudia and Ortiz Bruechle,
                      Nadina Carola and Koerber, Friederike and Schermer, Bernhard
                      and Benzing, Thomas and Dötsch, Jörg and Zerres, Klaus and
                      Weber, Lutz Thorsten and Beck, Bodo B. and Liebau, Max
                      Christoph},
      title        = {{C}hallenges in establishing genotype-phenotype
                      correlations in {ARPKD}: case report on a toddler with two
                      severe {PKHD}1 mutations},
      journal      = {Pediatric nephrology},
      volume       = {32},
      number       = {7},
      issn         = {0931-041X},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {RWTH-CONV-221586},
      pages        = {1269-1273},
      year         = {2017},
      cin          = {525000-2 / 9735208},
      cid          = {$I:(DE-82)525000-2_20140620$ / $I:(DE-82)9735208_20140620$},
      typ          = {PUB:(DE-HGF)16},
      UT           = {WOS:000401926600021},
      pubmed       = {pmid:28364132},
      doi          = {10.1007/s00467-017-3648-x},
      url          = {https://publications.rwth-aachen.de/record/716285},
}