Table of contents

Electronic letters

• Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII (1 November, 2000)

  A C NICHOLLS, J L SHER, M J WRIGHT, C OLEY, R F MUELLER, F M POPE
• Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1 (1 November, 2000)

  T J L DE RAVEL, G MATTHIJS, M HOLVOET, C WOUTERS, E LEGIUS, J P FRYNS
• Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

  (1 November, 2000)

  MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, RICHARD C TREMBATH
• A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis (1 November, 2000)

  JIAN-MIN CHEN, ODILE RAGUENES, CLAUDE FEREC, PIERRE H DEPREZ, CHRISTINE VERELLEN-DUMOULIN
• Familial craniofacial fibrous dysplasia: absence of linkage toGNAS1 and the gene for cherubism

  (1 November, 2000)

  JONATHAN MANGION, SARAH EDKINS, ALASTAIR N GOSS, MICHAEL R STRATTON, ADRIENNE M FLANAGAN
• Identification of three novel frameshift mutations in patients with Friedreich's ataxia (1 November, 2000)

  MARK A POOK, SAHAR A H AL-MAHDAWI, NEIL H THOMAS, RICHARD APPLETON, ANDREW NORMAN, ROGER MOUNTFORD, SUSAN CHAMBERLAIN
• Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE (1 November, 2000)

  SABER MASMOUDI, AMEL ELGAIED-BOULILA, ILYES KASSAB, SAIDA BEN ARAB, STEPHANE BLANCHARD, JA-EL BOUZOUITA, MOHAMED DRIRA, AICHA KASSAB, SLAH HACHICHA, CHRISTINE PETIT, HAMMADI AYADI
• Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease (1 November, 2000)

  DEBORAH L STONE, NAHID TAYEBI, CHANELLE COBLE, EDWARD I GINNS, ELLEN SIDRANSKY