[Genetic heterogeneity of retinitis pigmentosa].
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.
Krawczyński
M R
MR
Zakładu Genetyki Klinicznej, Instytutu Pediatrii AM, Poznaniu.
Pecold
K
K
D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*
Genetyczna heterogenność retinitis pigmentosa.