Syndromal mental retardation due to mutations in a regulator of gene expression.

  title={Syndromal mental retardation due to mutations in a regulator of gene expression.},
  author={Richard J. Gibbons and David J Picketts and Douglas R Higgs},
  journal={Human molecular genetics},
  volume={4 Spec No},
Mental handicap is a common clinical problem that has been a relatively neglected area of research. Though the causes are varied and complex, molecular biologists are making progress in understanding the mechanisms in some cases, particularly where there are distinguishing phenotypic or genetic markers. The fortuitous association of alpha thalassaemia with a form of mental retardation has allowed us to define a specific X-linked syndrome (ATR-X). Positional cloning was used to define a disease… CONTINUE READING


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