Article
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
American journal of medical genetics - 1 Jan 1992
Collins F A, Murphy D L, Reiss A L, Sims K B, Lewis J G, Freund L, Karoum F, Zhu D, Maumenee I H, Antonarakis S E
Abstract excerpt
Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a...
Topics
- Adolescent
- Blindness
- Chromosome Deletion
- Female
- Heterozygote
- Humans
- Intellectual Disability
- Male
- Monoamine Oxidase
- Myoclonus