PT  - JOURNAL ARTICLE
AU  - Donnai, D
AU  - Mountford, R C
AU  - Read, A P
TI  - Norrie disease resulting from a gene deletion: clinical features and DNA studies.
AID  - 10.1136/jmg.25.2.73
DP  - 1988 Feb 01
TA  - Journal of Medical Genetics
PG  - 73--78
VI  - 25
IP  - 2
4099  - http://jmg.bmj.com/content/25/2/73.short
4100  - http://jmg.bmj.com/content/25/2/73.full
SO  - J Med Genet1988 Feb 01; 25
AB  - 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.