Manifesting heterozygosity in Norrie's disease?
- 1 December 1993
- journal article
- case report
- Published by BMJ in British Journal of Ophthalmology
- Vol. 77 (12) , 813-814
- https://doi.org/10.1136/bjo.77.12.813
Abstract
No abstract availableThis publication has 10 references indexed in Scilit:
- X-Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier femalesClinical Genetics, 2008
- X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.British Journal of Ophthalmology, 1993
- Isolation of a candidate gene for Norrie disease by positional cloningNature Genetics, 1992
- SKEWED X INACTIVATION IN A FEMALE MZ TWIN RESULTS IN DUCHENNE MUSCULAR-DYSTROPHY1990
- Norrie disease resulting from a gene deletion: clinical features and DNA studies.Journal of Medical Genetics, 1988
- Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.British Journal of Ophthalmology, 1986
- NORRIE'S DISEASEActa Ophthalmologica, 1975
- Hereditary Cataracts and Microphthalmia*American Journal of Ophthalmology, 1963