Table of contents

New disease loci

• Short report:

  Mutations in GRIP1 cause Fraser syndrome

  (17 April, 2012)

  Maartje J Vogel, Patrick van Zon, Louise Brueton, Marleen Gijzen, Marc C van Tuil, Phillip Cox, Denny Schanze, Ariana Kariminejad, Siavash Ghaderi-Sohi, Edward Blair, Martin Zenker, Peter J Scambler, Hans Kristian Ploos van Amstel, Mieke M van Haelst
• Original article:

  A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

  (11 May, 2012)

  Merel S Ebberink, Janet Koster, Gepke Visser, Francjan van Spronsen, Irene Stolte-Dijkstra, G Peter A Smit, Johanna M Fock, Stephan Kemp, Ronald J A Wanders, Hans R Waterham
• Short report: First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes (11 May, 2012)

  S Thoms, Jutta Gärtner
• Short report:

  Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

  (17 April, 2012)

  Vincent Marion, Fanny Stutzmann, Marion Gérard, Charlie De Melo, Elise Schaefer, Aurélie Claussmann, Sophie Hellé, Valérie Delague, Eric Souied, Catherine Barrey, Alain Verloes, Corinne Stoetzel, Hélène Dollfus