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Case Reports
. 1988 Feb;25(2):73-8.
doi: 10.1136/jmg.25.2.73.

Norrie disease resulting from a gene deletion: clinical features and DNA studies

D Donnai  1 , R C Mountford, A P Read
Affiliations
Case Reports

Norrie disease resulting from a gene deletion: clinical features and DNA studies

D Donnai et al. J Med Genet. 1988 Feb.

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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References

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