Table of contents

Short reports

• A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants (1 June, 1999)

  Y V Voznyi, J L M Keulemans, G M S Mancini, C E Catsman-Berrevoets, E Young, B Winchester, W J Kleijer, O P van Diggelen
• Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome (1 June, 1999)

  P J Coucke, P Van Hauwe, L A Everett, O Demirhan, Y Kabakkaya, N L Dietrich, R J H Smith, E Coyle, W Reardon, R Trembath, P J Willems, E D Green, G Van Camp
• Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes (1 June, 1999)

  A Botta, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, L R Osborne, M C Digilio, A Giannotti, B Dallapiccola
• Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? (1 June, 1999)

  H C J P Janssen, C Schaap, N Vandevijver, P Moerman, C E M de Die-Smulders, J-P Fryns
• A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) (1 June, 1999)

  Alice S Brooks, Martijn H Breuning, Jan Osinga, Jasper J vd Smagt, Corine E Catsman, Charles H C M Buys, Carel Meijers, Robert M W Hofstra
• CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia (1 June, 1999)

  Anna Ruiz, Susana Puig, Josep Malvehy, Conxi Lázaro, Michael Lynch, Anna M Gimenez-Arnau, Lluis Puig, Julian Sánchez-Conejo, Xavier Estivill, Teresa Castel