- Cohen syndrome: evaluation of its cardiac, endocrine and radiological featuresS Kivitie-Kallio
Department of Child Neurology, University of Helsinki, Hospital for Children and Adolescents, Finland
Clin Genet 56:41-50. 1999..Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile...
- Refined mapping of the Cohen syndrome gene by linkage disequilibriumJ Kolehmainen
Department of Medical Genetics, University of Helsinki, Finland
Eur J Hum Genet 5:206-13. 1997..Haplotype analysis suggests the occurrence of one main COH1 mutation and possibly one or two rare ones in Finland. This information will be useful in the positional cloning of the gene...
- Periodontal findings in Cohen syndrome with chronic neutropeniaS Alaluusua
Department of Pedodontics and Orthodontics, Institute of Dentistry, University of Helsinki, Finland
J Periodontol 68:473-8. 1997..001) more often than the controls. We conclude that subjects with Cohen syndrome have increased susceptibility to early periodontal breakdown which is likely to be associated with neutropenia...
- Cohen syndrome: essential features, natural history, and heterogeneityS Kivitie-Kallio
Department of Pediatrics, Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
Am J Med Genet 102:125-35. 2001..The manifestations vary at different ages. The Finnish Cohen patients are clinically highly homogeneous, their disease gene being located on chromosome 8. Heterogeneity probably exists among other patients claimed to have Cohen syndrome...