Table of contents

Letters to the editor

• Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6gene

  (1 July, 2001)

  Dominique P Germain
• Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma (1 July, 2001)

  Robert B Chadwick, Robert E Pyatt, Theodore H Niemann, Samuel K Richards, Cheryl K Johnson, Michael W Stevens, Julie E Meek, Heather Hampel, Thomas W Prior, Albert de la Chapelle
• Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus

  (1 July, 2001)

  E S Tobias, G Bryce, G Farmer, J Barton, J Colgan, N Morrison, A Cooke, J L Tolmie
• Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

  (1 July, 2001)

  Helene Dollfus, Govindasamy Kumaramanickavel, Partha Biswas, Corinne Stoetzel, Renaud Quillet, Michael Denton, Marion Maw, Fabienne Perrin-Schmitt
• Association between the defective Pro369Ser mutation and in vivo intrahepatic α1-antitrypsin accumulation (1 July, 2001)

  Susana Seixas, Ana Isabel Lopes, Jorge Rocha, Lídia Silva, Carlos Salgueiro, Jaime Salazar-de-Sousa, Amélia Batista
• The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation (1 July, 2001)

  Vikas Mahavni, Seung C Kim, Teresa A Benda, Linda Sanders, Richard E Buller
• Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to theRP25 locus

  (1 July, 2001)

  Yang Li, Irene Marcos, Salud Borrego, Zhengya Yu, Kang Zhang, Guillermo Antiñolo
• PTEN mutations are uncommon in Proteus syndrome

  (1 July, 2001)

  K Barker, A Martinez, R Wang, S Bevan, V Murday, J Shipley, R Houlston, J Harper
• Limited contribution of interchromosomal gene conversion toNF1 gene mutation

  (1 July, 2001)

  M Luijten, R Fahsold, C Mischung, A Westerveld, P Nürnberg, T J M Hulsebos
• A clinical study of patients with multiple isolated neurofibromas (1 July, 2001)

  Patricia Blakley, David N Louis, M Priscilla Short, Mia MacCollin
• B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? (1 July, 2001)

  Patrick Edery, Françoise Le Deist, Marie-Louise Briard, Marianne Debré, Arnold Munnich, Claude Griscelli, Alain Fischer, Stanislas Lyonnet
• Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder (1 July, 2001)

  K L Baker, M I Rees, P W Thompson, R T Howell, T R Cole, H E Hughes, M Upadhyaya, D Ravine