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Del Giudice, Ennio [Author]; Macca, Marina [Author]; Franco, Brunella [Author]; Minnerop, Martina [Author]; Oral-Facial-Digital Type I Collaborative Group, OFD1 [Author]; Imperati, Floriana [Author]; D’Amico, Alessandra [Author]; Parent, Philippe [Author]; Pasquier, Laurent [Author]; Layet, Valerie [Author]; Lyonnet, Stanislas [Author]; Stamboul-Darmency, Veronique [Author]; Thauvin-Robinet, Christel [Author]

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyOral-Facial-Digital Type I

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  • Media type: E-Article
  • Title: CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyOral-Facial-Digital Type I
  • Contributor: Del Giudice, Ennio [Author]; Macca, Marina [Author]; Franco, Brunella [Author]; Minnerop, Martina [Author]; Oral-Facial-Digital Type I Collaborative Group, OFD1 [Author]; Imperati, Floriana [Author]; D’Amico, Alessandra [Author]; Parent, Philippe [Author]; Pasquier, Laurent [Author]; Layet, Valerie [Author]; Lyonnet, Stanislas [Author]; Stamboul-Darmency, Veronique [Author]; Thauvin-Robinet, Christel [Author]
  • imprint: BioMed Central, 2014
  • Published in: Orphanet journal of rare diseases 9(1), 74 (2014). doi:10.1186/1750-1172-9-74
  • Language: English
  • DOI: https://doi.org/10.1186/1750-1172-9-74
  • ISSN: 1750-1172
  • Origination:
  • Footnote: Diese Datenquelle enthält auch Bestandsnachweise, die nicht zu einem Volltext führen.
  • Description: Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.
  • Access State: Open Access