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Article

[Genetic diagnostic testing in inherited retinal dystrophies].

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2013

Kohl S, Biskup S

Abstract excerpt

Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal...

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Identifiers

PMID: 23208805
DOI: 10.1055/s-0032-1327929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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