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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

  • Izak J. Bisschoff
  • , Christine Zeschnigk
  • , Denise Horn
  • , Brigitte Wellek
  • , Angelika Rieß
  • , Maja Wessels
  • , Patrick Willems
  • , Peter Jensen
  • , Andreas Busche
  • , Jens Bekkebraten
  • , Maya Chopra
  • , Hanne Dahlgaard Hove
  • , Christina Evers
  • , Ketil Heimdal
  • , Ann Sophie Kaiser
  • , Erdmut Kunstmann
  • , Kristina Lagerstedt Robinson
  • , Maja Linné
  • , Patricia Martin
  • , James McGrath
    • Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J. Morris-Rosendahl

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology