Table of contents

Letters to the editor

• Constitutional WT1 mutations correlate with clinical features in children with progressive nephropathy

  (1 September, 2000)

  AYAKO TAKATA, HARUHITO KIKUCHI, RYUJI FUKUZAWA, SHUICHI ITO, MASATAKA HONDA, JUN-ICHI HATA
• Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia (1 September, 2000)

  AIDAN J MARSH, DIANA WELLESLEY, DAVID BURGE, MARK ASHTON, CAROLINE E BROWNE, NICHOLAS R DENNIS, I KAREN TEMPLE
• Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations (1 September, 2000)

  CLARE E BEESLEY, ELISABETH P YOUNG, ASHOK VELLODI, BRYAN G WINCHESTER
• Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts (1 September, 2000)

  TOSHIYUKI YAMAMOTO, HARUAKI NINOMIYA, MICHIKA MATSUMOTO, YASUTOSHI OHTA, EIJI NANBA, YUKIE TSUTSUMI, KAZUHIRO YAMAKAWA, GILLES MILLAT, MARIE T VANIER, PETER G PENTCHEV, KOUSAKU OHNO
• Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene

  (1 September, 2000)

  ACHILLE IOLASCON, ALESSANDRA MELONI, BRIGIDA COPPOLA, MARIA CRISTINA ROSATELLI
• I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels (1 September, 2000)

  KAREN E HEATH, ROS A WHITTALL, GEORGE J MILLER, STEVE E HUMPHRIES
• Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germlinePTEN mutations

  (1 September, 2000)

  PATRICIA M DAHIA, OLIVER GIMM, HONGOBO CHI, DEBBIE J MARSH, PAUL R REYNOLDS, CHARIS ENG
• Mosaicism in Alport syndrome and genetic counselling (1 September, 2000)

  MIRELLA BRUTTINI, FRANCESCA VITELLI, ILARIA MELONI, GIUSEPPE RIZZARI, MARIO DELLA VOLPE, GIANNA MAZZUCCO, MARIO DE MARCHI, ALESSANDRA RENIERI
• Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? (1 September, 2000)

  P A TERHAL, M G E M AUSEMS, Y VAN BEVER, L P TEN KATE, P F DIJKSTRA, G M C KUIJPERS
• Pili torti et canaliculi and agenesis of the teeth: report of a new “pure” hair-tooth ectodermal dysplasia in a Norwegian family (1 September, 2000)

  EDGAR SELVAAG
• Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q (1 September, 2000)

  PETER MICHAEL KROISEL, ERWIN PETEK, KLAUS WAGNER
• Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb (1 September, 2000)

  R BELL, G BRICE, A H CHILD, V A MURDAY, S MANSOUR, C J SANDY, J R O COLLIN, P MORTIMER, D F CALLEN, K BURNAND, S JEFFERY