Table of contents

Letters to JMG

• Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

  (12 January, 2007)

  Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, Martijn H Breuning, Dunja Niedrist, Raoul C Hennekam, Albert Schinzel, Dorien J M Peters
• l-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model

  (2 May, 2007)

  Jacques Penderis, Jacqui Calvin, Carley Abramson, Cornelis Jakobs, Louise Pettitt, Matthew M Binns, Nanda M Verhoeven, Eamonn O’Driscoll, Simon R Platt, Cathryn S Mellersh
• Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X (2 May, 2007)

  Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui
• FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage (2 May, 2007)

  Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, R Frank Kooy