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Research Article
Norrie disease resulting from a gene deletion: clinical features and DNA studies.
  1. D Donnai,
  2. R C Mountford,
  3. A P Read
  1. Department of Medical Genetics, St Mary's Hospital, Manchester.

    Abstract

    We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

    https://doi.org/10.1136/jmg.25.2.73

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