Table of contents

Original articles

• Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders (2 May, 2008)

  A-M Nyström, S Ekvall, E Berglund, M Björkqvist, G Braathen, K Duchen, H Enell, E Holmberg, U Holmlund, M Olsson-Engman, G Annerén, M-L Bondeson
• A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site (29 May, 2008)

  P Felderbauer, J Schnekenburger, R Lebert, K Bulut, M Parry, T Meister, V Schick, F Schmitz, W Domschke, W E Schmidt
• A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations (29 February, 2008)

  J Bryant, K Cooper, J Picot, A Clegg, P Roderick, W Rosenberg, C Patch
• X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits (15 April, 2008)

  L Kent, J Emerton, V Bhadravathi, E Weisblatt, G Pasco, L R Willatt, R McMahon, J R W Yates
• Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation

  (2 May, 2008)

  R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, H J M Smeets