Norrie disease resulting from a gene deletion: clinical features and DNA studies
D Donnai1, R C Mountford, A P Read
1Department of Medical Genetics, St Mary's Hospital, Manchester.
Journal of Medical Genetics
|February 1, 1988
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.
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