Norrie disease resulting from a gene deletion: clinical features and DNA studies.
Open Access
- 1 February 1988
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (2), 73-78
- https://doi.org/10.1136/jmg.25.2.73
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.Keywords
This publication has 11 references indexed in Scilit:
- Further linkage data on Norrie diseaseAmerican Journal of Medical Genetics, 1987
- Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie diseaseCytogenetic and Genome Research, 1986
- Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosisClinical Genetics, 1985
- Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosomeClinical Genetics, 1985
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1985
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1983
- A presumptive new variant of Norrie's disease.Journal of Medical Genetics, 1979
- Norrie's Disease (Hereditary Oculo-Acoustic-Cerebral Degeneration)American Journal of Ophthalmology, 1973
- Norrie's DiseaseAmerican Journal of Ophthalmology, 1968
- CAUSES OF BLINDNESS IN CHILDRENActa Ophthalmologica, 1927