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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

  • Katalin Szakszon*
  • , Charles Marques Lourenco
  • , Bert Louis Callewaert
  • , David Geneviève
  • , Flavien Rouxel
  • , Denis Morin
  • , Anne-Sophie Denommé-Pichon
  • , Antonio Vitobello
  • , Wesley G Patterson
  • , Raymond Louie
  • , Filippo Pinto E Vairo
  • , Eric Klee
  • , Charu Kaiwar
  • , Ralitza H Gavrilova
  • , Katherine E Agre
  • , Sebastien Jacquemont
  • , Jizi Khadijé
  • , Jacques Giltay
  • , Koen van Gassen
  • , Gabriella Mero
    • Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva Mc Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens
*Corresponding author for this work

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

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Biochemistry, Genetics and Molecular Biology