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[Genetic heterogeneity of retinitis pigmentosa]
1Zakładu Genetyki Klinicznej, Instytutu Pediatrii AM, Poznaniu.
Klinika Oczna
|January 1, 1994
Abstract:
The authors present a classification of retinitis pigmentosa (rp) based on the modes of inheritance. Known genetic conditions of autosomal recessive, X-linked recessive and autosomal dominant forms of rp are shown, presenting molecular principles of the illness. They also describe clinical subtypes of rp with suggested genotype-phenotype correlations and principles of modern genetic diagnostics and genetic counselling.