Review articles

	Fanconi anaemia M D Tischkowitz and S V Hodgson J Med Genet 2003; 40: 1-10. doi:10.1136/jmg.40.1.1 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients I Longo, S G M Frints, J-P Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, and G Froyen J Med Genet 2003; 40: 11-17. doi:10.1136/jmg.40.1.11 [Abstract] [Full text] [PDF] [Request Permissions]
	The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men A Ferlin, E Moro, A Rossi, B Dallapiccola, and C Foresta J Med Genet 2003; 40: 18-24. doi:10.1136/jmg.40.1.18 [Abstract] [Full text] [PDF] [Request Permissions]
	Differential targets of CpG island hypermethylation in primary and metastatic head and neck squamous cell carcinoma (HNSCC) D J Smiraglia, L T Smith, J C Lang, L J Rush, Z Dai, D E Schuller, and C Plass J Med Genet 2003; 40: 25-33. doi:10.1136/jmg.40.1.25 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome L Faivre, R J Gorlin, M K Wirtz, M Godfrey, N Dagoneau, J R Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, and V Cormier-Daire J Med Genet 2003; 40: 34-36. doi:10.1136/jmg.40.1.34 [Abstract] [Full text] [PDF] [Request Permissions]
	Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus N K Ragge, C Hartley, A M Dearlove, J Walker, I Russell-Eggitt, and C M Harris J Med Genet 2003; 40: 37-41. doi:10.1136/jmg.40.1.37 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus T J Kirkpatrick, K-S Au, J M Mastrobattista, M E McCready, D E Bulman, and H Northrup J Med Genet 2003; 40: 42-44. doi:10.1136/jmg.40.1.42 [Extract] [Full text] [PDF] [Request Permissions]
	Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, and W J Kimberling J Med Genet 2003; 40: 45-50. doi:10.1136/jmg.40.1.45 [Extract] [Full text] [PDF] [Request Permissions]
	Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene P Höglund, N Kurotaki, S Kytölä, N Miyake, M Somer, and N Matsumoto J Med Genet 2003; 40: 51-54. doi:10.1136/jmg.40.1.51 [Extract] [Full text] [PDF] [Request Permissions]
	P63 mutations are not a major cause of non-syndromic split hand/foot malformation X J de Mollerat, D B Everman, C T Morgan, K B Clarkson, R C Rogers, R S Colby, A S Aylsworth, J M Graham, Jr, R E Stevenson, and C E Schwartz J Med Genet 2003; 40: 55-61. doi:10.1136/jmg.40.1.55 [Extract] [Full text] [PDF] [Request Permissions]
	Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) E R Maher, L A Brueton, S C Bowdin, A Luharia, W Cooper, T R Cole, F Macdonald, J R Sampson, C L Barratt, W Reik, and M M Hawkins J Med Genet 2003; 40: 62-64. doi:10.1136/jmg.40.1.62 [Extract] [Full text] [Authors' Correction] [PDF] [Request Permissions]
	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W D Ballhausen, L Bonafé, P Terhal, S L Unger, G Bellus, M Classen, B C Hamel, J Spranger, B Zabel, D H Cohn, W G Cole, J T Hecht, and A Superti-Furga J Med Genet 2003; 40: 65-71. doi:10.1136/jmg.40.1.65 [Extract] [Full text] [PDF] [Request Permissions]
	Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome A Vogels, G Matthijs, E Legius, K Devriendt, and J-P Fryns J Med Genet 2003; 40: 72-73. doi:10.1136/jmg.40.1.72 [Extract] [Full text] [PDF] [Request Permissions]
	ß1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome H De Leersnyder, J L Bresson, M-C de Blois, J-C Souberbielle, A Mogenet, B Delhotal-Landes, F Salefranque, and A Munnich J Med Genet 2003; 40: 74-78. doi:10.1136/jmg.40.1.74 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	COPD research is urged to get interactive J Med Genet 2003; 40: 24. doi:10.1136/jmg.40.1.24 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome I Witters, P Moerman, F A Van Assche, and J-P Fryns J Med Genet 2003; 40: e1. doi:10.1136/jmg.40.1.e1 [Extract] [Full text] [PDF] [Request Permissions]
	Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? A-K Jbour, A F Mubaidin, M Till, H El-Shanti, A Hadidi, and K M Ajlouni J Med Genet 2003; 40: e2. doi:10.1136/jmg.40.1.e2 [Extract] [Full text] [PDF] [Request Permissions]
	Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants M C van Maarle, M E A Stouthard, and G J Bonsel J Med Genet 2003; 40: e3. doi:10.1136/jmg.40.1.e3 [Extract] [Full text] [PDF] [Request Permissions]
	No association between the EN2 gene and autistic disorder H Zhong, F J Serajee, R Nabi, and A H M Mahbubul Huq J Med Genet 2003; 40: e4. doi:10.1136/jmg.40.1.e4 [Extract] [Full text] [PDF] [Request Permissions]
	No correlation between phenotype and genotype in boys with a truncating MECP2 mutation K Ravn, J B Nielsen, P Uldall, F J Hansen, and M Schwartz J Med Genet 2003; 40: e5. doi:10.1136/jmg.40.1.e5 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation A Aboura, P Labrune, F Perreaux, V Poncet, S Brisset, L Foix-L’Helias, and G Tachdjian J Med Genet 2003; 40: e6. doi:10.1136/jmg.40.1.e6 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, and T Frebourg J Med Genet 2003; 40: e7. doi:10.1136/jmg.40.1.e7 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation S Bernal, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, and M Baiget J Med Genet 2003; 40: e8. doi:10.1136/jmg.40.1.e8 [Extract] [Full text] [PDF] [Request Permissions]
	CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients R Sitorus, S M Ardjo, B Lorenz, and M Preising J Med Genet 2003; 40: e9. doi:10.1136/jmg.40.1.e9 [Extract] [Full text] [PDF] [Request Permissions]