Table of contents

New disease loci

• Original article: Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (17 May, 2013)

  Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino
• Original article:

  TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

  (16 April, 2013)

  Wilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, Edward M Leter, J Menno Douwes, Arie Van Dijk, Anton Vonk-Noordegraaf, Krista K Dijk-Bos, Lies H Hoefsloot, Elke S Hoendermis, Johan J P Gille, Birgit Sikkema-Raddatz, Robert M W Hofstra, Rolf M F Berger
• Original article:

  GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

  (4 May, 2013) Free

  Marjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, Willy M Nillesen, Ernie M H F Bongers, Anna Castells-Nobau, Lenke Asztalos, Erika Viragh, Bregje W M van Bon, Emre Tezel, Joris A Veltman, Han G Brunner, Bert B A de Vries, Joep de Ligt, Helger G Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltan Asztalos, David A Koolen, Lisenka E L M Vissers, Annette Schenck, Tjitske Kleefstra
• Original article:

  Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

  (7 June, 2013)

  Çiğdem Köroğlu, Mehmet Seven, Aslıhan Tolun
• Original article:

  A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

  (1 May, 2013)

  Malin Kvarnung, Daniel Nilsson, Anna Lindstrand, G Christoph Korenke, Samuel C C Chiang, Elisabeth Blennow, Markus Bergmann, Tommy Stödberg, Outi Mäkitie, Britt-Marie Anderlid, Yenan T Bryceson, Magnus Nordenskjöld, Ann Nordgren