Table of contents

New loci

• Original article:

  IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

  (14 August, 2015)

  Isabelle Perrault, Jan Halbritter, Jonathan D Porath, Xavier Gérard, Daniela A Braun, Heon Yung Gee, Hanan M Fathy, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Michael Taschner, Markus Schueler, Esben Lorentzen, Richard P Lifton, Jennifer A Lawson, Meriem Garfa-Traore, Edgar A Otto, Philippe Bastin, Catherine Caillaud, Josseline Kaplan, Jean-Michel Rozet, Friedhelm Hildebrandt
• Original article: Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses (5 August, 2015)

  Sali M K Farhan, Jian Wang, John F Robinson, Asuri N Prasad, C Anthony Rupar, Victoria M Siu, FORGE Canada Consortium, Robert A Hegele
• Short report:

  A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

  (9 July, 2015)

  Muhammad Ansar, Syed Irfan Raza, Kwanghyuk Lee, Irfanullah, Shamim Shahi, Anushree Acharya, Hang Dai, Joshua D Smith, Jay Shendure, Michael J Bamshad, Deborah A Nickerson, Regie Lyn P Santos-Cortez, Wasim Ahmad, Suzanne M Leal