• Lad-1/Variant Syndrome Is Caused by Mutations in Fermt3 

      Kuijpers, Taco W.; van de Vijver, Edith; Weterman, Marian A. J.; de Boer, Martin; Tool, Anton T. J.; van den Berg, Timo K.; Moser, Markus; Jakobs, Marja E.; Seeger, Karl; Sanal, Oezden; Uenal, Sule; Cetin, Mualla; Roos, Dirk; Verhoeven, Arthur J.; Baas, Frank (Amer Soc Hematology, 2009)
      Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting ...