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J Med Genet. 1988 Feb;25(2):73-8.

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

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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.

PMID:
3162283
PMCID:
PMC1015446
[Indexed for MEDLINE]
Free PMC Article

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